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rs267606779

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267606779(C;G)
Make rs267606779(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position59301634
GeneEDN3
is asnp
is mentioned by
dbSNPrs267606779
ebirs267606779
HLIrs267606779
Exacrs267606779
Varsomers267606779
Maprs267606779
PheGenIrs267606779
hapmaprs267606779
1000 genomesrs267606779
hgdprs267606779
ensemblrs267606779
gopubmedrs267606779
geneviewrs267606779
scholarrs267606779
googlers267606779
pharmgkbrs267606779
gwascentralrs267606779
openSNPrs267606779
23andMers267606779
23andMe allrs267606779
SNP Nexus

SNPshotrs267606779
SNPdbers267606779
MSV3drs267606779
GWAS Ctlgrs267606779
Max Magnitude0
ClinVar
Risk rs267606779(G;G)
Alt rs267606779(G;G)
Reference rs267606779(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 4B
Variation info
Gene EDN3
CLNDBN Waardenburg syndrome type 4B
Reversed 0
HGVS NC_000020.10:g.57876689C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018131.27,