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: rs138213197
rs138213197
8 0.701 0.240 17 48728343 missense variant C/T snv 1.8E-03 1.6E-03 0.800 0.935 0 2012 2019