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: rs12117530
rs12117530
2 0.925 0.120 1 161674194 non coding transcript exon variant G/T snv 0.13 0.010 1.000 1 2015 2015