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: rs694383
rs694383
2 1 182599069 3 prime UTR variant G/C snv 0.96 0.700 1.000 2 2017 2017
dbSNP: rs1144566
rs1144566
1 1 182600491 missense variant T/A;C;G snv 0.98 0.700 1.000 1 2016 2016