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: rs199472941
rs199472941
2 0.925 0.120 7 150951568 missense variant C/A;G;T snv 0.700 1.000 6 2000 2016