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: rs121913647
rs121913647
4 0.925 0.160 14 23417173 missense variant C/A;G;T snv 1.6E-05 0.700 1.000 7 2004 2013