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rs387906947

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906947(C;G)
Make rs387906947(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297061
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs387906947
ebirs387906947
HLIrs387906947
Exacrs387906947
Varsomers387906947
Maprs387906947
PheGenIrs387906947
hapmaprs387906947
1000 genomesrs387906947
hgdprs387906947
ensemblrs387906947
gopubmedrs387906947
geneviewrs387906947
scholarrs387906947
googlers387906947
pharmgkbrs387906947
gwascentralrs387906947
openSNPrs387906947
23andMers387906947
23andMe allrs387906947
SNP Nexus

SNPshotrs387906947
SNPdbers387906947
MSV3drs387906947
GWAS Ctlgrs387906947
Max Magnitude0
ClinVar
Risk rs387906947(G;G)
Alt rs387906947(G;G)
Reference rs387906947(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 1
Variation info
Gene PAX3 CCDC140
CLNDBN Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223161780G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000023560.3,