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: rs80357382
rs80357382
11 0.763 0.240 17 43106457 missense variant T/C snv 4.0E-06 0.010 1.000 1 2011 2011