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: rs12405515
rs12405515
2 1 172388301 intron variant G/A;C;T snv 0.700 1.000 2 2017 2017