Source: ALL
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: rs1017946059
rs1017946059
EVC
2 0.925 0.160 4 5731657 missense variant G/A snv 8.1E-06 7.0E-06 0.800 1.000 2 2010 2013