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: rs398123588
rs398123588
5 0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06 0.010 1.000 1 2011 2011