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: rs121918460
rs121918460
27 0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06 0.700 1.000 3 2002 2012