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rs397515372

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515372(-;-)
Make rs397515372(-;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37973981
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515372
ebirs397515372
HLIrs397515372
Exacrs397515372
Varsomers397515372
Maprs397515372
PheGenIrs397515372
hapmaprs397515372
1000 genomesrs397515372
hgdprs397515372
ensemblrs397515372
gopubmedrs397515372
geneviewrs397515372
scholarrs397515372
googlers397515372
pharmgkbrs397515372
gwascentralrs397515372
openSNPrs397515372
23andMers397515372
23andMe allrs397515372
SNP Nexus

SNPshotrs397515372
SNPdbers397515372
MSV3drs397515372
GWAS Ctlgrs397515372
Max Magnitude0
ClinVar
Risk rs397515372(;)
Alt rs397515372(;)
Reference rs397515372(G;G)
Significance Pathogenic
Disease Peripheral demyelinating neuropathy
Variation info
Gene SOX10 POLR2F
CLNDBN Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease
Reversed 1
HGVS NC_000022.10:g.38369988delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007837.3,