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rs397515369

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397515369(-;-)
Make rs397515369(-;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position37978058
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515369
ebirs397515369
HLIrs397515369
Exacrs397515369
Varsomers397515369
Maprs397515369
PheGenIrs397515369
hapmaprs397515369
1000 genomesrs397515369
hgdprs397515369
ensemblrs397515369
gopubmedrs397515369
geneviewrs397515369
scholarrs397515369
googlers397515369
pharmgkbrs397515369
gwascentralrs397515369
openSNPrs397515369
23andMers397515369
23andMe allrs397515369
SNP Nexus

SNPshotrs397515369
SNPdbers397515369
MSV3drs397515369
GWAS Ctlgrs397515369
Max Magnitude0
ClinVar
Risk rs397515369(;)
Alt rs397515369(;)
Reference rs397515369(C;C)
Significance Pathogenic
Disease Waardenburg syndrome type 2E
Variation info
Gene SOX10 POLR2F
CLNDBN Waardenburg syndrome type 2E, without neurologic involvement
Reversed 1
HGVS NC_000022.10:g.38374065delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000007832.3,