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: rs886043448
rs886043448
4 0.882 0.200 5 13793709 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2014 2014