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: rs17118
rs17118
4 0.925 0.120 3 38362981 missense variant C/A;T snv 0.29 0.010 1.000 1 2014 2014