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: rs121918218
rs121918218
2 0.925 0.160 1 115664171 missense variant G/A snv 5.2E-05 6.3E-05 0.700 1.000 1 2007 2007