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: rs747141352
rs747141352
3 0.882 0.160 8 127736607 missense variant G/A;C snv 8.0E-06 0.010 1.000 1 2014 2014