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: rs375118292
rs375118292
3 0.925 0.080 2 224506080 missense variant T/A;C snv 2.0E-05 0.010 1.000 1 2014 2014