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: rs398122410
rs398122410
ERMARD
1 1.000 6 169769610 missense variant T/A snv 0.800 1.000 1 2013 2013