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: rs2115536
rs2115536
2 15 79901905 intron variant C/T snv 0.50 0.700 1.000 1 2016 2016
dbSNP: rs7257
rs7257
1 15 79899001 missense variant G/A snv 0.51 0.47 0.700 1.000 1 2019 2019