rs397514490

Orientation

minus

Stabilized

minus

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

Make rs397514490(G;T)

Make rs397514490(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

131159562

Gene

HINT1

is a	snp
is	mentioned by
dbSNP	rs397514490
dbSNP (classic)	rs397514490
ClinGen	rs397514490
ebi	rs397514490
HLI	rs397514490
Exac	rs397514490
Gnomad	rs397514490
Varsome	rs397514490
LitVar	rs397514490
Map	rs397514490
PheGenI	rs397514490
Biobank	rs397514490
1000 genomes	rs397514490
hgdp	rs397514490
ensembl	rs397514490
geneview	rs397514490
scholar	rs397514490
google	rs397514490
pharmgkb	rs397514490
gwascentral	rs397514490
openSNP	rs397514490
23andMe	rs397514490
SNPshot	rs397514490
SNPdbe	rs397514490
MSV3d	rs397514490
GWAS Ctlg	rs397514490

Max Magnitude

0

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 UniProtKB (protein)
CLNACC	RCV000030854.2,