Source: CLINVAR ×
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: rs121913315
rs121913315
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913316
rs121913316
1 1.000 0.080 19 1220489 missense variant A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913317
rs121913317
1 1.000 0.080 19 1220503 stop gained G/A;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913322
rs121913322
1 0.882 0.120 19 1221320 missense variant C/A;G;T snv 2.9E-05; 1.2E-04 0.700 1.000 1 2014 2014
dbSNP: rs121913323
rs121913323
2 1.000 0.040 19 1220416 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913324
rs121913324
3 1.000 0.160 19 1207022 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913325
rs121913325
1 19 1223060 stop gained G/A snv 0.700 1.000 1 2014 2014