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rs397514490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514490(G;T)
Make rs397514490(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position131159562
GeneHINT1
is asnp
is mentioned by
dbSNPrs397514490
ebirs397514490
HLIrs397514490
Exacrs397514490
Varsomers397514490
Maprs397514490
PheGenIrs397514490
hapmaprs397514490
1000 genomesrs397514490
hgdprs397514490
ensemblrs397514490
gopubmedrs397514490
geneviewrs397514490
scholarrs397514490
googlers397514490
pharmgkbrs397514490
gwascentralrs397514490
openSNPrs397514490
23andMers397514490
23andMe allrs397514490
SNP Nexus

SNPshotrs397514490
SNPdbers397514490
MSV3drs397514490
GWAS Ctlgrs397514490
Max Magnitude0
ClinVar
Risk rs397514490(T;T)
Alt rs397514490(T;T)
Reference rs397514490(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.130495255C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000030854.2,