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rs397515457

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397515457(G;G)
Make rs397515457(G;T)
ReferenceGRCh38 38.1/141
Chromosome22
Position37983783
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515457
ebirs397515457
HLIrs397515457
Exacrs397515457
Varsomers397515457
Maprs397515457
PheGenIrs397515457
hapmaprs397515457
1000 genomesrs397515457
hgdprs397515457
ensemblrs397515457
gopubmedrs397515457
geneviewrs397515457
scholarrs397515457
googlers397515457
pharmgkbrs397515457
gwascentralrs397515457
openSNPrs397515457
23andMers397515457
23andMe allrs397515457
SNP Nexus

SNPshotrs397515457
SNPdbers397515457
MSV3drs397515457
GWAS Ctlgrs397515457
Max Magnitude0
ClinVar
Risk rs397515457(G;G)
Alt rs397515457(G;G)
Reference rs397515457(T;T)
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.38379790A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000055673.2,