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rs267606931

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606931(G;T)
Make rs267606931(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position222297132
GeneCCDC140, PAX3
is asnp
is mentioned by
dbSNPrs267606931
ebirs267606931
HLIrs267606931
Exacrs267606931
Varsomers267606931
Maprs267606931
PheGenIrs267606931
hapmaprs267606931
1000 genomesrs267606931
hgdprs267606931
ensemblrs267606931
gopubmedrs267606931
geneviewrs267606931
scholarrs267606931
googlers267606931
pharmgkbrs267606931
gwascentralrs267606931
openSNPrs267606931
23andMers267606931
23andMe allrs267606931
SNP Nexus

SNPshotrs267606931
SNPdbers267606931
MSV3drs267606931
GWAS Ctlgrs267606931
Max Magnitude0
ClinVar
Risk rs267606931(T;T)
Alt rs267606931(T;T)
Reference rs267606931(G;G)
Significance Pathogenic
Disease Waardenburg syndrome type 1
Variation info
Gene PAX3 CCDC140
CLNDBN Waardenburg syndrome type 1
Reversed 1
HGVS NC_000002.11:g.223161851C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000004438.3,