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: rs397516830
rs397516830
5 0.827 0.160 3 12604182 missense variant A/C;G;T snv 0.800 1.000 4 2007 2010