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: rs7835379
rs7835379
1 8 94962852 intron variant G/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs12548367
rs12548367
1 8 94916974 intron variant C/A;T snv 0.700 1.000 1 2019 2019