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: rs879255498
rs879255498
4 0.851 0.080 17 43094606 stop gained T/A;C snv 0.700 0
dbSNP: rs886040898
rs886040898
6 0.827 0.200 17 43115743 stop gained A/C;T snv 0.700 0
dbSNP: rs45553935
rs45553935
7 0.851 0.200 17 43057122 missense variant A/C;G;T snv 0.800 1.000 3 2013 2018