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: rs2292596
rs2292596
7 0.827 0.240 5 422840 missense variant C/G;T snv 0.38; 4.0E-06 0.010 1.000 1 2005 2005