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: rs4581
rs4581
5 0.851 0.160 17 66214639 missense variant C/A;G snv 0.38; 4.0E-06; 4.0E-06 0.36 0.010 1.000 1 2015 2015