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: rs137853240
rs137853240
8 0.807 0.080 12 120994405 missense variant G/A snv 1.4E-05 0.010 1.000 1 2016 2016