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: rs427943
rs427943
1 21 45150981 intron variant A/C snv 0.56 0.700 1.000 4 2015 2019
dbSNP: rs394608
rs394608
1 21 45161883 intron variant T/C snv 0.51 0.700 1.000 1 2019 2019