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rs397515370

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397515370(A;C)
Make rs397515370(C;C)
ReferenceGRCh38 38.1/141
Chromosome22
Position37974200
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515370
ebirs397515370
HLIrs397515370
Exacrs397515370
Varsomers397515370
Maprs397515370
PheGenIrs397515370
hapmaprs397515370
1000 genomesrs397515370
hgdprs397515370
ensemblrs397515370
gopubmedrs397515370
geneviewrs397515370
scholarrs397515370
googlers397515370
pharmgkbrs397515370
gwascentralrs397515370
openSNPrs397515370
23andMers397515370
23andMe allrs397515370
SNP Nexus

SNPshotrs397515370
SNPdbers397515370
MSV3drs397515370
GWAS Ctlgrs397515370
Max Magnitude0
ClinVar
Risk rs397515370(C;C)
Alt rs397515370(C;C)
Reference rs397515370(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.38370207T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000007834.3,