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: rs111033578
rs111033578
5 0.827 0.200 11 119339574 missense variant G/C snv 0.030 1.000 3 2005 2018