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rs397514492

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514492(C;T)
Make rs397514492(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position131162604
GeneHINT1
is asnp
is mentioned by
dbSNPrs397514492
ebirs397514492
HLIrs397514492
Exacrs397514492
Varsomers397514492
Maprs397514492
PheGenIrs397514492
hapmaprs397514492
1000 genomesrs397514492
hgdprs397514492
ensemblrs397514492
gopubmedrs397514492
geneviewrs397514492
scholarrs397514492
googlers397514492
pharmgkbrs397514492
gwascentralrs397514492
openSNPrs397514492
23andMers397514492
23andMe allrs397514492
SNP Nexus

SNPshotrs397514492
SNPdbers397514492
MSV3drs397514492
GWAS Ctlgrs397514492
Max Magnitude0
ClinVar
Risk rs397514492(T;T)
Alt rs397514492(T;T)
Reference rs397514492(C;C)
Significance Pathogenic
Disease Neuromyotonia and axonal neuropathy
Variation info
Gene HINT1
CLNDBN Neuromyotonia and axonal neuropathy, autosomal recessive
Reversed 1
HGVS NC_000005.9:g.130498297G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030857.3,