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: rs1046934
rs1046934
4 1.000 0.080 1 184054395 missense variant A/C;G;T snv 0.34; 4.0E-06 0.700 1.000 1 2017 2017
dbSNP: rs2274432
rs2274432
5 1 184051811 missense variant G/A snv 0.33 0.28 0.700 1.000 1 2017 2017