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rs267607081

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs267607081(A;C)
Make rs267607081(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position37978043
GeneSOX10
is asnp
is mentioned by
dbSNPrs267607081
ebirs267607081
HLIrs267607081
Exacrs267607081
Varsomers267607081
Maprs267607081
PheGenIrs267607081
hapmaprs267607081
1000 genomesrs267607081
hgdprs267607081
ensemblrs267607081
gopubmedrs267607081
geneviewrs267607081
scholarrs267607081
googlers267607081
pharmgkbrs267607081
gwascentralrs267607081
openSNPrs267607081
23andMers267607081
23andMe allrs267607081
SNP Nexus

SNPshotrs267607081
SNPdbers267607081
MSV3drs267607081
GWAS Ctlgrs267607081
Max Magnitude0
ClinVar
Risk rs267607081(C;C)
Alt rs267607081(C;C)
Reference rs267607081(A;A)
Significance Pathogenic
Disease Waardenburg syndrome type 2E
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 2E, with neurologic involvement
Reversed 1
HGVS NC_000022.10:g.38374050T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007835.2,