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rs397514493

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514493(A;A)
Make rs397514493(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position131159550
GeneHINT1
is asnp
is mentioned by
dbSNPrs397514493
ebirs397514493
HLIrs397514493
Exacrs397514493
Varsomers397514493
Maprs397514493
PheGenIrs397514493
hapmaprs397514493
1000 genomesrs397514493
hgdprs397514493
ensemblrs397514493
gopubmedrs397514493
geneviewrs397514493
scholarrs397514493
googlers397514493
pharmgkbrs397514493
gwascentralrs397514493
openSNPrs397514493
23andMers397514493
23andMe allrs397514493
SNP Nexus

SNPshotrs397514493
SNPdbers397514493
MSV3drs397514493
GWAS Ctlgrs397514493
Max Magnitude0
ClinVar
Risk rs397514493(A;A)
Alt rs397514493(A;A)
Reference rs397514493(G;G)
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.130495243C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030858.2,