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: rs146150511
rs146150511
2 0.925 0.080 10 47353508 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013