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: rs1819436
rs1819436
1 13 78006148 intron variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs9318511
rs9318511
1 13 78027278 intron variant A/C;T snv 0.700 1.000 1 2019 2019