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: 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: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.030 1.000 3 2018 2019
dbSNP: rs61749397
rs61749397
VWF
9 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2010 2017
dbSNP: rs104894815
rs104894815
9 0.776 0.120 X 48792337 missense variant G/A snv 0.020 1.000 2 2000 2012
dbSNP: rs10510050
rs10510050
1 10 118867050 intron variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs10759637
rs10759637
2 1.000 0.040 9 113262744 3 prime UTR variant A/C snv 0.47 0.010 1.000 1 2018 2018