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: rs1057518972
rs1057518972
7 0.827 0.200 8 115418359 missense variant C/T snv 0.700 0
dbSNP: rs886040971
rs886040971
56 0.683 0.280 8 115604339 stop gained G/A;T snv 0.700 0