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: rs281865547
rs281865547
2 0.925 0.120 17 7689284 missense variant C/A snv 0.700 0
dbSNP: rs1213207387
rs1213207387
1 1.000 0.120 17 7689255 stop gained C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019