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: rs121913390
rs121913390
2 5 150073481 stop gained A/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913392
rs121913392
1 5 150054081 stop gained A/C;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913393
rs121913393
2 5 150054083 missense variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs1801271
rs1801271
2 5 150054082 missense variant T/A;C snv 0.700 1.000 1 2014 2014