Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1052533574
rs1052533574
ITGA2B
1 1.000 0.080 17 44386063 missense variant A/G snv 0.700 0
dbSNP: rs1188383936
rs1188383936
F2
102 0.524 0.760 11 46725976 missense variant C/T snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2009 2019
dbSNP: rs121918444
rs121918444
ITGB3
1 1.000 0.080 17 47286364 missense variant G/A snv 7.0E-06 0.800 1.000 19 1990 2017
dbSNP: rs121918445
rs121918445
ITGB3
1 1.000 0.080 17 47284514 missense variant G/T snv 0.800 1.000 19 1990 2017
dbSNP: rs121918446
rs121918446
ITGB3
1 1.000 0.080 17 47286363 missense variant C/T snv 1.2E-05 7.0E-06 0.800 1.000 19 1990 2017
dbSNP: rs121918447
rs121918447
ITGB3 ; THCAT158
1 1.000 0.080 17 47310169 missense variant T/C snv 0.810 1.000 19 1990 2017
dbSNP: rs121918449
rs121918449
ITGB3
1 1.000 0.080 17 47291027 missense variant G/A snv 0.810 1.000 19 1990 2017
dbSNP: rs121918450
rs121918450
ITGB3 ; THCAT158
1 1.000 0.080 17 47307584 stop gained C/T snv 4.4E-05 1.5E-04 0.700 0
dbSNP: rs121918451
rs121918451
ITGB3
1 1.000 0.080 17 47300488 stop gained G/T snv 0.700 0
dbSNP: rs121918452
rs121918452
ITGB3
1 1.000 0.080 17 47284509 missense variant T/G snv 2.0E-05 0.800 1.000 19 1990 2017
dbSNP: rs13306476
rs13306476
ITGB3
1 1.000 0.080 17 47287209 missense variant A/C;G snv 4.0E-06; 8.0E-06 0.700 0
dbSNP: rs1344532070
rs1344532070
ITGA2B
1 1.000 0.080 17 44375894 missense variant A/G snv 8.2E-06 7.0E-06 0.700 0
dbSNP: rs1361881161
rs1361881161
ITGA2B
1 1.000 0.080 17 44385698 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs137852906
rs137852906
ITGA2B
1 1.000 0.080 17 44380004 stop gained G/A;T snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs137852907
rs137852907
ITGA2B
1 1.000 0.080 17 44384567 missense variant C/T snv 0.810 1.000 20 1994 2010
dbSNP: rs137852908
rs137852908
ITGA2B
1 1.000 0.080 17 44383630 missense variant C/T snv 0.810 0.952 21 1994 2010
dbSNP: rs137852910
rs137852910
ITGA2B
1 1.000 0.080 17 44383640 missense variant C/T snv 8.8E-06 0.800 1.000 20 1994 2010
dbSNP: rs137852911
rs137852911
ITGA2B
1 1.000 0.080 17 44385193 missense variant A/C;G snv 4.0E-06 0.810 1.000 20 1994 2010
dbSNP: rs1393770089
rs1393770089
ITGA2B
1 1.000 0.080 17 44375674 missense variant G/A snv 0.010 1.000 1 1992 1992
dbSNP: rs143146734
rs143146734
ITGB3
1 1.000 0.080 17 47284644 missense variant C/T snv 4.0E-06 0.700 1.000 19 1990 2017
dbSNP: rs144246695
rs144246695
HPSE
4 0.851 0.160 4 83310887 missense variant G/A snv 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs144884023
rs144884023
ITGB3
1 1.000 0.080 17 47299430 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 19 1990 2017
dbSNP: rs1555613692
rs1555613692
ITGA2B
1 1.000 0.080 17 44378360 splice donor variant A/G snv 0.700 0
dbSNP: rs1567764064
rs1567764064
ITGB3
1 1.000 0.080 17 47283513 frameshift variant G/- del 0.700 0