GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CFH I62Vuncertain pathogenicother

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 V62Iuncertain protective, f=0.392other

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 R127Linsufficiently evaluated pathogenicunknown

(9 web hits)

CFH E189Xinsufficiently evaluated pathogenicunknown

(3 web hits)

CFH Y368Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
CFH H402Yinsufficiently evaluated not reviewed, f=0.626unknown

(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 Y402Hinsufficiently evaluated pathogenicunknown

(2620 web hits)

CFH Q408Xinsufficiently evaluated pathogenicunknown

(2 web hits)

CFH C431Sinsufficiently evaluated pathogenicunknown

(3 web hits)

CFH Y481Xinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CFH C536Rinsufficiently evaluated pathogenicunknown

(6 web hits)

CFH I551Tinsufficiently evaluated not reviewed, f=0.015unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18508-1100-36-ASM
CFH E570Xinsufficiently evaluated noneunknown
CFH N638Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CFH L761Hinsufficiently evaluated not reviewedunknown
CFH S890Iinsufficiently evaluated not reviewed, f=0.068unknown

(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 Y899Xinsufficiently evaluated pathogenicunknown

(4 web hits)

CFH E936Dinsufficiently evaluated none, f=0.139unknown

(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 Q950Hpathogenic, f=0.004dominant

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 C959Yinsufficiently evaluated pathogenicunknown

(6 web hits)

CFH V1007Linsufficiently evaluated not reviewed, f=0.090unknown 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 T1017Iinsufficiently evaluated not reviewed, f=0.006unknown var-GS18505-1100-36-ASM
CFH N1050Yinsufficiently evaluated not reviewed, f=0.024unknown var-GS19701-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS06994-1100-36-ASM
CFH I1059Tinsufficiently evaluated not reviewed, f=0.022unknown

(2 web hits)

hu728FFF build 36 substitution variants
var-GS18508-1100-36-ASM
CFH R1078Sinsufficiently evaluated pathogenicunknown

(2 web hits)

CFH G1110Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
CFH Q1143Einsufficiently evaluated not reviewed, f=0.034unknown 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 E1172Xinsufficiently evaluated pathogenicunknown

(4 web hits)

CFH L1189Rinsufficiently evaluated pathogenicunknown

(21 web hits)

CFH S1191Linsufficiently evaluated pathogenicunknown

(118 web hits)

CFH E1198Xinsufficiently evaluated pathogenicunknown

(1 web hit)

CFH R1210Cinsufficiently evaluated pathogenic, f=0.000unknown

(97 web hits)

CFH R1215Ginsufficiently evaluated pathogenicunknown

(24 web hits)

CFHR1 H157Yinsufficiently evaluated none, f=0.305unknown 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 L159Vinsufficiently evaluated not reviewed, f=0.288unknown

(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 E175Qinsufficiently evaluated none, f=0.268unknown 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 Q242Einsufficiently evaluated not reviewed, f=0.028unknown

(4 web hits)

var-GS19240-1100-36-ASM
CFHR1 L290Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS18502-1100-36-ASM (hom)
CFHR1 A296Vinsufficiently evaluated not reviewed, f=0.029unknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
CFHR2 S65Cinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C05 from PGP sample 42408046
CFHR2 T71Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
CFHR2 C72Yinsufficiently evaluated not reviewed, f=0.019unknown 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 R132Qinsufficiently evaluated none, f=0.009unknown var-GS19129-1100-36-ASM
CFHR2 D159Ginsufficiently evaluated not reviewed, f=0.000unknown
CFHR2 E199Xinsufficiently evaluated none, f=0.006unknown

(1 web hit)

CGI sample GS00253-DNA_A01_200_37
CFHR2 Y264Cinsufficiently evaluated not reviewed, f=0.013unknown var-GS20509-1100-36-ASM
CFHR3 I8Minsufficiently evaluated noneunknown
CFHR3 G95Ainsufficiently evaluated not reviewedunknown
CFHR3 R142Cinsufficiently evaluated noneunknown
CFHR3 I171Tinsufficiently evaluated noneunknown
CFHR3 K174Ninsufficiently evaluated noneunknown
CFHR3 A199Tinsufficiently evaluated noneunknown
CFHR3 P241Sinsufficiently evaluated noneunknown
CFHR3 I312Finsufficiently evaluated noneunknown
CFHR4 V21Ainsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
CFHR4 V61Linsufficiently evaluated noneunknown
CFHR4 V93Ainsufficiently evaluated not reviewed, f=0.008unknown var-GS19701-1100-36-ASM
CFHR4 V93Iinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
CFHR4 I100Vinsufficiently evaluated noneunknown
CFHR4 E102Kinsufficiently evaluated noneunknown
CFHR4 Y115Hinsufficiently evaluated noneunknown
CFHR4 N116Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
CFHR4 E125Dinsufficiently evaluated not reviewed, f=1.000unknown 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 R165Winsufficiently evaluated noneunknown
CFHR4 N210Sinsufficiently evaluated not reviewed, f=0.567unknown 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 D258Einsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
CFHR4 G306Einsufficiently evaluated noneunknown

(2 web hits)

CFHR4 L314Iinsufficiently evaluated noneunknown
CFHR4 I347Vinsufficiently evaluated not reviewed, f=0.004unknown var-GS19129-1100-36-ASM
CFHR4 E349Kinsufficiently evaluated not reviewed, f=0.004unknown var-GS19129-1100-36-ASM
CFHR4 A371Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19704-1100-36-ASM
CFHR4 R412Winsufficiently evaluated not reviewed, f=0.004unknown var-GS19129-1100-36-ASM
CFHR4 G553Einsufficiently evaluated not reviewed, f=0.074unknown 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 L561Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19129-1100-36-ASM
CFHR5 G145Einsufficiently evaluated none, f=0.040unknown 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 E163Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
CFHR5 C208Rinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D05 from PGP sample 1205491
CFHR5 G278Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D03 from PGP sample 27486199
CFHR5 R356Hinsufficiently evaluated not reviewed, f=0.021unknown var-GS12004-1100-36-ASM
CFHR5 V379Linsufficiently evaluated not reviewed, f=0.004unknown
CFHR5 F539Vinsufficiently evaluated not reviewed, f=0.000unknown
CFHR5 C568Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS19026-1100-36-ASM
Page: 1 2 3 4 5 6 7 8 9
Total results: 82

Gene search

"GENE" or "GENE A123C":

Log in