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: rs7534220
rs7534220
1 1.000 0.080 1 100258911 non coding transcript exon variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs3131837
rs3131837
3 0.882 0.080 1 100252204 non coding transcript exon variant C/G snv 0.80 0.010 1.000 1 2019 2019