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: rs1085307289
rs1085307289
2 0.925 0.080 2 202530845 missense variant T/C snv 0.700 0
dbSNP: rs1085307290
rs1085307290
2 0.925 0.080 2 202530865 missense variant T/C snv 0.700 0
dbSNP: rs1085307312
rs1085307312
2 0.925 0.080 2 202532658 missense variant T/C snv 0.700 0
dbSNP: rs1085307315
rs1085307315
2 0.925 0.080 2 202532677 stop gained T/G snv 0.700 0
dbSNP: rs1085307340
rs1085307340
2 0.925 0.080 2 202542401 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs1085307349
rs1085307349
2 0.925 0.080 2 202542448 splice donor variant G/A snv 0.700 0
dbSNP: rs1085307352
rs1085307352
2 0.925 0.080 2 202552726 stop gained C/A snv 0.700 0
dbSNP: rs137852741
rs137852741
7 0.807 0.120 2 202556360 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs137852742
rs137852742
2 0.925 0.080 2 202464950 stop gained C/G;T snv 0.700 0
dbSNP: rs137852745
rs137852745
2 0.925 0.080 2 202552756 missense variant A/G snv 0.700 0
dbSNP: rs137852746
rs137852746
3 0.882 0.080 2 202552773 missense variant C/T snv 0.700 0
dbSNP: rs137852748
rs137852748
2 0.925 0.080 2 202556282 stop gained C/T snv 0.700 0
dbSNP: rs137852749
rs137852749
3 0.882 0.080 2 202552774 missense variant G/A snv 0.700 0
dbSNP: rs137852750
rs137852750
2 0.925 0.080 2 202467638 missense variant T/A;C snv 0.700 0
dbSNP: rs137852751
rs137852751
2 0.925 0.080 2 202530820 stop gained C/T snv 0.700 0
dbSNP: rs137852753
rs137852753
3 0.882 0.080 2 202518831 stop gained C/T snv 0.700 0
dbSNP: rs1553509997
rs1553509997
2 0.925 0.080 2 202532698 frameshift variant -/GA delins 0.700 0
dbSNP: rs373725296
rs373725296
2 0.925 0.080 2 202556373 missense variant A/G snv 1.2E-05 2.8E-05 0.700 0
dbSNP: rs576091247
rs576091247
2 0.925 0.080 2 202520094 stop gained T/A;C snv 0.700 0
dbSNP: rs765887545
rs765887545
2 0.925 0.080 2 202555415 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs863223424
rs863223424
2 0.925 0.080 2 202520085 splice acceptor variant A/G snv 7.2E-06 0.700 0
dbSNP: rs863223426
rs863223426
2 0.925 0.080 2 202467648 missense variant A/G snv 0.700 0
dbSNP: rs869025366
rs869025366
2 0.925 0.080 2 202513739 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs886041324
rs886041324
2 0.925 0.080 2 202518837 stop gained C/T snv 0.700 0