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: rs7447593
rs7447593
4 5 177397136 non coding transcript exon variant C/G;T snv 0.700 1.000 1 2018 2018