rs397514489

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs397514489(C;C)

Make rs397514489(C;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

131159578

Gene

HINT1

is a	snp
is	mentioned by
dbSNP	rs397514489
dbSNP (classic)	rs397514489
ClinGen	rs397514489
ebi	rs397514489
HLI	rs397514489
Exac	rs397514489
Gnomad	rs397514489
Varsome	rs397514489
LitVar	rs397514489
Map	rs397514489
PheGenI	rs397514489
Biobank	rs397514489
1000 genomes	rs397514489
hgdp	rs397514489
ensembl	rs397514489
geneview	rs397514489
scholar	rs397514489
google	rs397514489
pharmgkb	rs397514489
gwascentral	rs397514489
openSNP	rs397514489
23andMe	rs397514489
SNPshot	rs397514489
SNPdbe	rs397514489
MSV3d	rs397514489
GWAS Ctlg	rs397514489

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000030853.3,