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rs397514491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514491(A;G)
Make rs397514491(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position131162636
GeneHINT1
is asnp
is mentioned by
dbSNPrs397514491
ebirs397514491
HLIrs397514491
Exacrs397514491
Varsomers397514491
Maprs397514491
PheGenIrs397514491
hapmaprs397514491
1000 genomesrs397514491
hgdprs397514491
ensemblrs397514491
gopubmedrs397514491
geneviewrs397514491
scholarrs397514491
googlers397514491
pharmgkbrs397514491
gwascentralrs397514491
openSNPrs397514491
23andMers397514491
23andMe allrs397514491
SNP Nexus

SNPshotrs397514491
SNPdbers397514491
MSV3drs397514491
GWAS Ctlgrs397514491
Max Magnitude0
ClinVar
Risk rs397514491(G;G)
Alt rs397514491(G;G)
Reference rs397514491(A;A)
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.130498329T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000030856.2,