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: rs1085308043
rs1085308043
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs1276388879
rs1276388879
1 1.000 0.040 1 151405647 missense variant A/C;G snv 0.700 0
dbSNP: rs1372713010
rs1372713010
1 1.000 0.040 1 151428041 missense variant G/A snv 0.700 0
dbSNP: rs1418634444
rs1418634444
1 1.000 0.040 1 151408777 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1452048149
rs1452048149
1 1.000 0.040 1 151404828 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1476293577
rs1476293577
1 1.000 0.040 1 151428188 missense variant G/A;C snv 0.700 0
dbSNP: rs1484207450
rs1484207450
1 1.000 0.040 1 151405155 missense variant A/G snv 7.0E-06 0.700 0
dbSNP: rs1557863430
rs1557863430
1 1.000 0.040 1 151405229 missense variant T/C snv 0.700 0
dbSNP: rs1557863440
rs1557863440
1 1.000 0.040 1 151405233 missense variant T/C snv 0.700 0
dbSNP: rs1557863546
rs1557863546
1 1.000 0.040 1 151405263 missense variant T/A snv 0.700 0
dbSNP: rs1557867853
rs1557867853
1 1.000 0.040 1 151406330 missense variant G/A snv 0.700 0
dbSNP: rs1557870645
rs1557870645
1 1.000 0.040 1 151407271 missense variant C/T snv 0.700 0
dbSNP: rs1557874046
rs1557874046
1 1.000 0.040 1 151408807 missense variant T/G snv 0.700 0
dbSNP: rs1557901347
rs1557901347
1 1.000 0.040 1 151424027 missense variant G/C snv 0.700 0
dbSNP: rs1557902023
rs1557902023
1 1.000 0.040 1 151424154 missense variant G/C snv 0.700 0
dbSNP: rs1557909572
rs1557909572
1 1.000 0.040 1 151427931 missense variant G/C snv 0.700 0
dbSNP: rs1557909821
rs1557909821
1 1.000 0.040 1 151427999 missense variant A/G snv 0.700 0
dbSNP: rs1557910728
rs1557910728
1 1.000 0.040 1 151428233 missense variant T/C snv 0.700 0
dbSNP: rs1557911386
rs1557911386
1 1.000 0.040 1 151428357 missense variant T/A snv 0.700 0
dbSNP: rs1557916296
rs1557916296
1 1.000 0.040 1 151430822 missense variant C/A snv 0.700 0
dbSNP: rs1557935477
rs1557935477
1 1.000 0.040 1 151440939 missense variant G/T snv 0.700 0
dbSNP: rs1565532385
rs1565532385
3 0.925 0.080 11 118374964 frameshift variant CA/- del 0.700 0