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rs397515371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397515371(-;-)
Make rs397515371(-;G)
ReferenceGRCh38 38.1/141
Chromosome22
Position37974099
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515371
ebirs397515371
HLIrs397515371
Exacrs397515371
Varsomers397515371
Maprs397515371
PheGenIrs397515371
hapmaprs397515371
1000 genomesrs397515371
hgdprs397515371
ensemblrs397515371
gopubmedrs397515371
geneviewrs397515371
scholarrs397515371
googlers397515371
pharmgkbrs397515371
gwascentralrs397515371
openSNPrs397515371
23andMers397515371
23andMe allrs397515371
SNP Nexus

SNPshotrs397515371
SNPdbers397515371
MSV3drs397515371
GWAS Ctlgrs397515371
Max Magnitude0
ClinVar
Risk rs397515371(;)
Alt rs397515371(;)
Reference rs397515371(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.38370106delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000007836.4,