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: rs12758407
rs12758407
1 1 42041342 non coding transcript exon variant T/A;G snv 0.700 1.000 1 2019 2019