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: rs12052715
rs12052715
2 2 159820864 intron variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs78685880
rs78685880
1 2 159850033 missense variant A/G snv 2.3E-03 8.2E-04 0.700 1.000 1 2018 2018