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: rs1064797085
rs1064797085
2 1.000 11 128810620 frameshift variant ATTA/- delins 0.700 0
dbSNP: rs138924661
rs138924661
9 0.807 0.120 17 56848773 stop gained G/A snv 9.1E-05 1.5E-04 0.700 0
dbSNP: rs1441937959
rs1441937959
20 0.763 0.280 15 82240555 missense variant T/C snv 8.2E-06 0.700 0
dbSNP: rs1553196096
rs1553196096
5 1 22086463 missense variant G/A snv 0.700 0
dbSNP: rs1554162524
rs1554162524
4 0.882 0.160 6 79925034 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554785242
rs1554785242
8 0.882 0.160 9 133426240 missense variant G/T snv 0.700 0
dbSNP: rs1554791280
rs1554791280
8 0.882 0.160 9 133442718 missense variant T/C snv 0.700 0
dbSNP: rs1554800065
rs1554800065
2 1.000 0.120 10 27100445 5 prime UTR variant G/C snv 0.700 0
dbSNP: rs1556620697
rs1556620697
10 0.827 0.360 X 124365758 splice region variant C/G snv 0.700 0
dbSNP: rs1569061762
rs1569061762
1 21 34859476 missense variant C/T snv 0.700 0
dbSNP: rs1569061768
rs1569061768
2 1.000 0.120 21 34859477 stop gained G/A snv 0.700 0
dbSNP: rs190521996
rs190521996
12 0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 0.700 0
dbSNP: rs397518423
rs397518423
10 0.790 0.240 1 9726972 missense variant G/A snv 0.700 0
dbSNP: rs555607708
rs555607708
33 0.667 0.360 22 28695869 frameshift variant G/- del 2.0E-03 1.8E-03 0.700 0
dbSNP: rs587776456
rs587776456
2 1.000 0.120 X 48794162 stop lost T/C snv 0.700 0
dbSNP: rs757788894
rs757788894
6 0.882 0.120 16 1449081 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs786205154
rs786205154
3 1.000 0.120 12 11885921 coding sequence variant GAACA/- delins 0.700 0
dbSNP: rs80338701
rs80338701
14 0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 0.700 0
dbSNP: rs867593888
rs867593888
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 0
dbSNP: rs869320714
rs869320714
3 1.000 17 35557404 missense variant A/T snv 0.700 0
dbSNP: rs869320715
rs869320715
3 1.000 17 35557406 missense variant T/A snv 0.700 0
dbSNP: rs878853314
rs878853314
GBA
5 0.882 0.240 1 155239655 missense variant C/G snv 0.700 0
dbSNP: rs878853315
rs878853315
GBA
5 0.925 0.160 1 155236292 missense variant G/C snv 0.700 0
dbSNP: rs779449782
rs779449782
VWF
1 12 6057915 missense variant G/A;C snv 1.6E-05 1.4E-05 0.010 1.000 1 1992 1992
dbSNP: rs74315451
rs74315451
2 1.000 0.120 21 34880665 missense variant C/G snv 0.010 1.000 1 2002 2002