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: rs7958311
rs7958311
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.020 1.000 2 2012 2018