GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
F5 G15Sinsufficiently evaluated none, f=0.018unknown

(94 web hits)

var-GS19025-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
F5 D107Hinsufficiently evaluated not reviewed, f=0.157unknown

(1 web hit)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM (hom)
var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
F5 E119Xinsufficiently evaluated pathogenicunknown

(1 web hit)

F5 R306Ginsufficiently evaluated pathogenicunknown

(7 web hits)

F5 R306Tinsufficiently evaluated pathogenicunknown

(11 web hits)

F5 I359Tinsufficiently evaluated pathogenicunknown

(7 web hits)

F5 M413Tuncertain benign, f=0.058unknown

Presumed benign. This variant is not particularly rare and has not been reported to cause disease.

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
F5 R506Qinsufficiently evaluated pathogenicrecessive

Factor V Leiden. This variant has been shown to increase blood coagulation and therefore embolism susceptibility. The variant evidence, computational PolyPhen, indicates that this is of likely clinical importance. Functional evidence is that the protein produced by the Factor V gene cannot be normally cut by another protein if there is this variation. There is extensive case/control and familial evidence in numerous literature citations.

Most heterozygotes never show any symptoms, which would be embolisms. Embolisms, however, can be very serious.

Blood coagulation can be returned to normal levels using the inexpensive medicine Warfarin. The appropriate Warfarin dosing varies from person to person in part dependent upon SNPs in other genes. Diet and lifestyle also have an impact; certain foods like spinach and miso have substantial coagulation impacts and need to be taken into consideration.

Individuals with this variation need to be particularly careful on long airplane flights, as the change in pressure and low humidity will increase the chance of unnecessary clotting. This mutation also has interactions with certain birth control medications.

(361 web hits)

F5 R513Kinsufficiently evaluated none, f=0.098unknown

(3 web hits)

var-GS19025-1100-36-ASM (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19240-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
F5 R534Rinsufficiently evaluated pathogenicother
F5 Q534Rinsufficiently evaluated pharmacogenetic, f=0.978unknown

(1 web hit)

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 GS01669-DNA_F02 from PGP sample 40767107 (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
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
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-GS19704-1100-36-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)
CGI sample GS00253-DNA_F01_200_37 (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
F5 T702Iinsufficiently evaluated not reviewed, f=0.011unknown var-GS19703-1100-36-ASM
F5 H710Rinsufficiently evaluated not reviewed, f=0.004unknown var-GS18505-1100-36-ASM
F5 Q773Xinsufficiently evaluated pathogenicunknown

(4 web hits)

F5 P809Sinsufficiently evaluated none, f=0.028unknown

(5 web hits)

var-GS19020-1100-36-ASM
var-GS18508-1100-36-ASM
F5 N817Tinsufficiently evaluated none, f=0.046unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
F5 K858Rinsufficiently evaluated not reviewed, f=0.244unknown

(5 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F5 H865Rinsufficiently evaluated not reviewed, f=0.244unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F5 G903Rinsufficiently evaluated not reviewedunknown
F5 K925Einsufficiently evaluated not reviewed, f=0.244unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F5 R980Linsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
F5 E1054Dinsufficiently evaluated not reviewed, f=0.002unknown var-GS18505-1100-36-ASM
F5 R1133Xinsufficiently evaluated pathogenicunknown

(3 web hits)

F5 H1146Qinsufficiently evaluated none, f=0.024unknown

(2 web hits)

var-GS21767-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
F5 L1249Iinsufficiently evaluated noneunknown
F5 L1276Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS19669-1100-36-ASM
F5 H1282Rinsufficiently evaluated not reviewed, f=0.004unknown var-GS18505-1100-36-ASM
F5 L1285Iinsufficiently evaluated none, f=0.174unknown

(1 web hit)

CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18558-1100-36-ASM
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18517-1100-36-ASM
F5 H1299Rinsufficiently evaluated not reviewedunknown

(15 web hits)

F5 I1321Linsufficiently evaluated none, f=0.009unknown
F5 H1327Rinsufficiently evaluated none, f=0.046unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
F5 L1330Iinsufficiently evaluated none, f=0.012unknown var-GS19834-1100-36-ASM
F5 L1397Finsufficiently evaluated none, f=0.007unknown var-GS18942-1100-36-ASM (hom)
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS18555-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
F5 P1404Sinsufficiently evaluated none, f=0.037unknown

(3 web hits)

var-GS07357-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
var-GS18947-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
F5 P1449Linsufficiently evaluated not reviewed, f=0.000unknown
F5 S1516Iinsufficiently evaluated none, f=0.008unknown var-GS18517-1100-36-ASM
F5 E1530Ainsufficiently evaluated not reviewed, f=0.002unknown var-GS19700-1100-36-ASM
F5 N1575Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS19669-1100-36-ASM
F5 L1670Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
F5 T1685Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
F5 Y1702Cinsufficiently evaluated pathogenicunknown

(16 web hits)

F5 L1749Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B04 from PGP sample 88590671
F5 M1764Vinsufficiently evaluated not reviewed, f=0.291unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37
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
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
var-GS19129-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
F5 K1819Shiftinsufficiently evaluated not reviewed, f=0.009unknown var-GS10851-1100-36-ASM
F5 T2026Iinsufficiently evaluated not reviewedunknown
F5 R2074Cinsufficiently evaluated pathogenicunknown

(5 web hits)

F5 M2148Tinsufficiently evaluated none, f=0.031unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
F5 K2185Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS18505-1100-36-ASM
F5 D2222Guncertain benign, f=0.045undefined

Other mutations in this gene are associated with Factor 5 deficiency. There is no literature implicating this variant, however, and it is fairly common in the population (3.8% in HapMap), and so it is currently labeled as benign.

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
Page: 1 2 3 4 5
Total results: 49

Gene search

"GENE" or "GENE A123C":

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