| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| CFH I62V | uncertain pathogenic | other | Homozygotes for this are estimated to have a 4-5% increased risk for age related macular degeneration (ARMD) (total risk of 12-13% compared to average lifetime of 8%). Heterozygotes have average or slightly lower risk, and non-carriers have 4-5% lower risk. ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.
(145 web hits) | |
| CFH V62I | uncertain protective, f=0.392 | other | Associated with a decreased risk for age related macular degeneration (ARMD). Homozygotes for this have a 4-5% decreased attributable risk (3-4% vs. average 8% risk), heterozygotes have slightly lower than average risk (7%). Non-carriers have an increased risk (12-13%). ARMD impairs sharp vision as age progresses. While there is no cure, treatment can slow progression of the disease and environmental factors (smoking and obesity) contribute to higher risk.
(29 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| var-GS19020-1100-36-ASM (hom) |
| var-GS19700-1100-36-ASM |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM |
| var-GS21767-1100-36-ASM (hom) |
| var-GS19704-1100-36-ASM (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS19648-1100-36-ASM |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM (hom) |
| var-GS19240-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM |
| var-GS19238-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFH R127L | insufficiently evaluated pathogenic | unknown |
(9 web hits) | |
| CFH E189X | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| CFH Y368X | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18504-1100-36-ASM |
| CFH H402Y | insufficiently evaluated not reviewed, f=0.626 | unknown |
(8 web hits) | CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome |
| hu3215A7 build 36 substitution variants |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| CGI sample GS000005532 (hom) |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS21767-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants |
| var-GS18947-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| CFH Y402H | insufficiently evaluated pathogenic | unknown |
(2620 web hits) | |
| CFH Q408X | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CFH C431S | insufficiently evaluated pathogenic | unknown |
(3 web hits) | |
| CFH Y481X | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CFH C536R | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| CFH I551T | insufficiently evaluated not reviewed, f=0.015 | unknown |
| var-GS19703-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS18508-1100-36-ASM |
| CFH E570X | insufficiently evaluated none | unknown |
| |
| CFH N638S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CFH L761H | insufficiently evaluated not reviewed | unknown |
| |
| CFH S890I | insufficiently evaluated not reviewed, f=0.068 | unknown |
(5 web hits) | var-GS19025-1100-36-ASM |
| hu3215A7 build 36 substitution variants |
| var-GS19020-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| CFH Y899X | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| CFH E936D | insufficiently evaluated none, f=0.139 | unknown |
(24 web hits) | CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| hu34D5B9 exome |
| var-GS18942-1100-36-ASM |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS000006909 |
| var-GS19703-1100-36-ASM |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS00253-DNA_G01_200_37 |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 |
| var-GS19649-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
| var-GS18526-1100-36-ASM (hom) |
| var-GS18947-1100-36-ASM |
| var-GS19670-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| CFH Q950H | pathogenic, f=0.004 | dominant | This rare variant was found heterozygously (presumed acting in a dominant manner) in a single sporadic case of atypical hemolytic-uremic syndrome — a potentially lethal medical emergency, usually occurring in childhood. Although predicted to be disruptive, observations of the variant lack statistical significance.
(3 web hits) | CGI sample GS00253-DNA_B01_200_37 |
| CFH C959Y | insufficiently evaluated pathogenic | unknown |
(6 web hits) | |
| CFH V1007L | insufficiently evaluated not reviewed, f=0.090 | unknown |
| var-GS19025-1100-36-ASM |
| hu3215A7 build 36 substitution variants |
| var-GS19020-1100-36-ASM |
| var-GS19703-1100-36-ASM |
| var-GS19704-1100-36-ASM (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM |
| var-GS19017-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19240-1100-36-ASM |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| var-GS18508-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| CFH T1017I | insufficiently evaluated not reviewed, f=0.006 | unknown |
| var-GS18505-1100-36-ASM |
| CFH N1050Y | insufficiently evaluated not reviewed, f=0.024 | unknown |
| var-GS19701-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS06994-1100-36-ASM |
| CFH I1059T | insufficiently evaluated not reviewed, f=0.022 | unknown |
(2 web hits) | hu728FFF build 36 substitution variants |
| var-GS18508-1100-36-ASM |
| CFH R1078S | insufficiently evaluated pathogenic | unknown |
(2 web hits) | |
| CFH G1110A | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18558-1100-36-ASM |
| CFH Q1143E | insufficiently evaluated not reviewed, f=0.034 | unknown |
| var-GS19703-1100-36-ASM |
| var-GS19704-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19129-1100-36-ASM |
| hu728FFF build 36 substitution variants |
| var-GS18508-1100-36-ASM |
| CFH E1172X | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| CFH L1189R | insufficiently evaluated pathogenic | unknown |
(21 web hits) | |
| CFH S1191L | insufficiently evaluated pathogenic | unknown |
(118 web hits) | |
| CFH E1198X | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| CFH R1210C | insufficiently evaluated pathogenic, f=0.000 | unknown |
(97 web hits) | |
| CFH R1215G | insufficiently evaluated pathogenic | unknown |
(24 web hits) | |
| CFHR1 H157Y | insufficiently evaluated none, f=0.305 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS000006909 |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18947-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR1 L159V | insufficiently evaluated not reviewed, f=0.288 | unknown |
(5 web hits) | CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| var-GS18942-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| var-GS19735-1100-36-ASM |
| CGI sample GS000006909 |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18947-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR1 E175Q | insufficiently evaluated none, f=0.268 | unknown |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| var-GS19020-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM |
| var-GS19703-1100-36-ASM (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19701-1100-36-ASM (hom) |
| var-GS19834-1100-36-ASM |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR1 Q242E | insufficiently evaluated not reviewed, f=0.028 | unknown |
(4 web hits) | var-GS19240-1100-36-ASM |
| CFHR1 L290S | insufficiently evaluated not reviewed, f=0.000 | unknown |
| var-GS18502-1100-36-ASM (hom) |
| CFHR1 A296V | insufficiently evaluated not reviewed, f=0.029 | unknown |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19239-1100-36-ASM |
| var-GS18502-1100-36-ASM (hom) |
| CFHR2 S65C | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| CFHR2 T71M | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 |
| CFHR2 C72Y | insufficiently evaluated not reviewed, f=0.019 | unknown |
| var-GS19735-1100-36-ASM |
| CGI sample GS00253-DNA_G01_200_37 |
| var-GS19649-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR2 R132Q | insufficiently evaluated none, f=0.009 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR2 D159G | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| CFHR2 E199X | insufficiently evaluated none, f=0.006 | unknown |
(1 web hit) | CGI sample GS00253-DNA_A01_200_37 |
| CFHR2 Y264C | insufficiently evaluated not reviewed, f=0.013 | unknown |
| var-GS20509-1100-36-ASM |
| CFHR3 I8M | insufficiently evaluated none | unknown |
| |
| CFHR3 G95A | insufficiently evaluated not reviewed | unknown |
| |
| CFHR3 R142C | insufficiently evaluated none | unknown |
| |
| CFHR3 I171T | insufficiently evaluated none | unknown |
| |
| CFHR3 K174N | insufficiently evaluated none | unknown |
| |
| CFHR3 A199T | insufficiently evaluated none | unknown |
| |
| CFHR3 P241S | insufficiently evaluated none | unknown |
| |
| CFHR3 I312F | insufficiently evaluated none | unknown |
| |
| CFHR4 V21A | insufficiently evaluated none, f=0.008 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 V61L | insufficiently evaluated none | unknown |
| |
| CFHR4 V93A | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19701-1100-36-ASM |
| CFHR4 V93I | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 I100V | insufficiently evaluated none | unknown |
| |
| CFHR4 E102K | insufficiently evaluated none | unknown |
| |
| CFHR4 Y115H | insufficiently evaluated none | unknown |
| |
| CFHR4 N116K | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 E125D | insufficiently evaluated not reviewed, f=1.000 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom) |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom) |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom) |
| hu34D5B9 exome (hom) |
| hu3215A7 build 36 substitution variants (hom) |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom) |
| var-GS18942-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| var-GS19020-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom) |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| CGI sample GS000005532 (hom) |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants (hom) |
| var-GS12004-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom) |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| var-GS21767-1100-36-ASM (hom) |
| var-GS10851-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom) |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM (hom) |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom) |
| var-GS19648-1100-36-ASM (hom) |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 (hom) |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom) |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom) |
| var-GS19129-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_D01_200_37 (hom) |
| var-GS19240-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS18526-1100-36-ASM (hom) |
| hu728FFF build 36 substitution variants (hom) |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19238-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 (hom) |
| var-GS06994-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom) |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM (hom) |
| var-GS19669-1100-36-ASM (hom) |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM (hom) |
| var-GS18940-1100-36-ASM (hom) |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| var-GS18517-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom) |
| CFHR4 R165W | insufficiently evaluated none | unknown |
| |
| CFHR4 N210S | insufficiently evaluated not reviewed, f=0.567 | unknown |
| CGI sample GS00253-DNA_E01_200_37 (hom) |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu3215A7 build 36 substitution variants |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom) |
| hu34D5B9 exome |
| var-GS18504-1100-36-ASM |
| var-GS18558-1100-36-ASM (hom) |
| var-GS19735-1100-36-ASM (hom) |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 (hom) |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom) |
| CGI sample GS00253-DNA_G01_200_37 (hom) |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| var-GS21767-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS00253-DNA_A01_200_37 (hom) |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom) |
| CGI sample GS00253-DNA_B01_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom) |
| CGI sample GS00253-DNA_F01_200_37 |
| var-GS20502-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom) |
| var-GS19129-1100-36-ASM |
| var-GS19240-1100-36-ASM |
| var-GS18947-1100-36-ASM (hom) |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A02_200_37 |
| CGI sample GS00253-DNA_H01_200_37 |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom) |
| var-GS18508-1100-36-ASM |
| var-GS19669-1100-36-ASM |
| var-GS19026-1100-36-ASM |
| var-GS20509-1100-36-ASM |
| var-GS18940-1100-36-ASM |
| var-GS06985-1100-36-ASM (hom) |
| var-GS18956-1100-36-ASM (hom) |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR4 D258E | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 G306E | insufficiently evaluated none | unknown |
(2 web hits) | |
| CFHR4 L314I | insufficiently evaluated none | unknown |
| |
| CFHR4 I347V | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 E349K | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 A371Shift | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19704-1100-36-ASM |
| CFHR4 R412W | insufficiently evaluated not reviewed, f=0.004 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR4 G553E | insufficiently evaluated not reviewed, f=0.074 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom) |
| CGI sample GS000006909 |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom) |
| var-GS07357-1100-36-ASM |
| var-GS10851-1100-36-ASM |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS00253-DNA_F01_200_37 |
| CGI sample GS00253-DNA_C01_200_37 (hom) |
| var-GS19670-1100-36-ASM |
| var-GS06994-1100-36-ASM |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| CFHR4 L561I | insufficiently evaluated not reviewed, f=0.003 | unknown |
| var-GS19129-1100-36-ASM |
| CFHR5 G145E | insufficiently evaluated none, f=0.040 | unknown |
| var-GS19704-1100-36-ASM |
| CGI sample GS00253-DNA_B02_200_37 |
| var-GS19129-1100-36-ASM |
| CGI sample GS00253-DNA_D01_200_37 |
| var-GS19026-1100-36-ASM |
| CFHR5 E163Shift | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CFHR5 C208R | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| CFHR5 G278S | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 |
| CGI sample GS01175-DNA_D03 from PGP sample 27486199 |
| CFHR5 R356H | insufficiently evaluated not reviewed, f=0.021 | unknown |
| var-GS12004-1100-36-ASM |
| CFHR5 V379L | insufficiently evaluated not reviewed, f=0.004 | unknown |
| |
| CFHR5 F539V | insufficiently evaluated not reviewed, f=0.000 | unknown |
| |
| CFHR5 C568X | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19026-1100-36-ASM |
Page: 1 2 3 4 5 6 7 8 9
Total results: 82 |