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rs397515368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAAGGGGGCCCT;AAAGGGGGCCCT) 0 common in clinvar
Make rs397515368(-;-)
Make rs397515368(-;AAAGGGGGCCCT)
ReferenceGRCh38 38.1/141
Chromosome22
Position37973485
GeneSOX10
is asnp
is mentioned by
dbSNPrs397515368
ebirs397515368
HLIrs397515368
Exacrs397515368
Varsomers397515368
Maprs397515368
PheGenIrs397515368
hapmaprs397515368
1000 genomesrs397515368
hgdprs397515368
ensemblrs397515368
gopubmedrs397515368
geneviewrs397515368
scholarrs397515368
googlers397515368
pharmgkbrs397515368
gwascentralrs397515368
openSNPrs397515368
23andMers397515368
23andMe allrs397515368
SNP Nexus

SNPshotrs397515368
SNPdbers397515368
MSV3drs397515368
GWAS Ctlgrs397515368
Max Magnitude0
ClinVar
Risk rs397515368(;)
Alt rs397515368(;)
Reference rs397515368(AAAGGGGGCCCT;AAAGGGGGCCCT)
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.38369492_38369503delAGGGCCCCCTTT
CLNSRC OMIM Allelic Variant
CLNACC RCV000007824.4,