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rs267606778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267606778(A;G)
Make rs267606778(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position59301692
GeneEDN3
is asnp
is mentioned by
dbSNPrs267606778
dbSNP (classic)rs267606778
ClinGenrs267606778
ebirs267606778
HLIrs267606778
Exacrs267606778
Gnomadrs267606778
Varsomers267606778
LitVarrs267606778
Maprs267606778
PheGenIrs267606778
Biobankrs267606778
1000 genomesrs267606778
hgdprs267606778
ensemblrs267606778
geneviewrs267606778
scholarrs267606778
googlers267606778
pharmgkbrs267606778
gwascentralrs267606778
openSNPrs267606778
23andMers267606778
SNPshotrs267606778
SNPdbers267606778
MSV3drs267606778
GWAS Ctlgrs267606778
Max Magnitude0
ClinVar
Risk rs267606778(G;G)
Alt rs267606778(G;G)
Reference Rs267606778(A;A)
Significance Pathogenic
Disease Waardenburg syndrome type 4B
Variation info
Gene EDN3
CLNDBN Waardenburg syndrome type 4B
Reversed 0
HGVS NC_000020.10:g.57876747A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000018130.28,