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: rs757461
rs757461
1 16 4245907 non coding transcript exon variant C/A;T snv 0.700 1.000 1 2019 2019