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rs397514489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514489(C;C)
Make rs397514489(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position131159578
GeneHINT1
is asnp
is mentioned by
dbSNPrs397514489
ebirs397514489
HLIrs397514489
Exacrs397514489
Varsomers397514489
Maprs397514489
PheGenIrs397514489
hapmaprs397514489
1000 genomesrs397514489
hgdprs397514489
ensemblrs397514489
gopubmedrs397514489
geneviewrs397514489
scholarrs397514489
googlers397514489
pharmgkbrs397514489
gwascentralrs397514489
openSNPrs397514489
23andMers397514489
23andMe allrs397514489
SNP Nexus

SNPshotrs397514489
SNPdbers397514489
MSV3drs397514489
GWAS Ctlgrs397514489
Max Magnitude0
ClinVar
Risk rs397514489(C;C)
Alt rs397514489(C;C)
Reference rs397514489(T;T)
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.130495271A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000030853.3,