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: rs12091730
rs12091730
1 1.000 0.080 1 155587180 intron variant G/A;C snv 0.700 1.000 1 2017 2017