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: rs184187143
rs184187143
4 0.882 0.200 3 48628699 missense variant C/A;G snv 1.8E-03 1.6E-03 0.010 1.000 1 2016 2016