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: rs121918462
rs121918462
13 0.742 0.320 12 112450398 missense variant C/T snv 0.730 1.000 3 2004 2014