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: rs1043202
rs1043202
3 0.882 0.080 12 54182178 missense variant T/A snv 0.010 1.000 1 2008 2008
dbSNP: rs771744744
rs771744744
3 0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010