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: rs16929368
rs16929368
1 12 2414606 intron variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs35407591
rs35407591
1 12 2408721 intron variant G/A snv 0.36 0.700 1.000 1 2016 2016