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: rs201780393
rs201780393
1 1.000 0.120 16 2099931 missense variant C/T snv 1.8E-05 2.8E-05 0.700 1.000 20 1996 2009