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: rs76811038
rs76811038
ITGA2B
1 1.000 0.080 17 44379780 missense variant A/G snv 6.4E-05 5.6E-05 0.800 0
dbSNP: rs79560904
rs79560904
ITGB3
1 1.000 0.080 17 47286385 missense variant G/A snv 0.800 0
dbSNP: rs80002943
rs80002943
ITGA2B
1 1.000 0.080 17 44374732 missense variant G/A snv 0.800 0
dbSNP: rs1052533574
rs1052533574
ITGA2B
1 1.000 0.080 17 44386063 missense variant A/G snv 0.700 0
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: 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: 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: 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
dbSNP: rs749261962
rs749261962
ITGB3
1 1.000 0.080 17 47287068 splice acceptor variant A/G snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs763330792
rs763330792
ITGA2B
1 1.000 0.080 17 44375719 splice region variant G/A;C;T snv 5.5E-06; 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs766503255
rs766503255
ITGA2B
4 0.882 0.080 17 44372408 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs767548512
rs767548512
ITGB3
1 1.000 0.080 17 47284529 missense variant A/C;G snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs77458039
rs77458039
ITGA2B
1 1.000 0.080 17 44375039 missense variant C/A snv 0.700 0
dbSNP: rs77961246
rs77961246
ITGA2B
1 1.000 0.080 17 44377772 missense variant A/G snv 4.0E-06; 4.0E-06 7.0E-06 0.700 0
dbSNP: rs77963874
rs77963874
ITGB3
1 1.000 0.080 17 47284512 missense variant T/G snv 7.0E-06 0.700 0
dbSNP: rs780017389
rs780017389
ITGA2B
1 1.000 0.080 17 44380901 inframe deletion TCTACG/- delins 4.0E-06 0.700 0
dbSNP: rs78657866
rs78657866
ITGA2B
1 1.000 0.080 17 44374470 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs79208797
rs79208797
ITGB3
1 1.000 0.080 17 47286310 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs80277041
rs80277041
ITGA2B
1 1.000 0.080 17 44379689 missense variant C/G snv 0.700 0
dbSNP: rs879255508
rs879255508
ITGA2B
1 1.000 0.080 17 44385706 splice acceptor variant GGCGCAGGCCTGG/- delins 0.700 0
dbSNP: rs879255509
rs879255509
ITGA2B
1 1.000 0.080 17 44380385 splice donor variant C/T 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