rs80356701

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;T)	4	Myotonia congenita; Thomsen's disease; quite variable in degree
(T;T)	0	common in clinvar

Make rs80356701(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143330838

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356701
dbSNP (classic)	rs80356701
ClinGen	rs80356701
ebi	rs80356701
HLI	rs80356701
Exac	rs80356701
Gnomad	rs80356701
Varsome	rs80356701
LitVar	rs80356701
Map	rs80356701
PheGenI	rs80356701
Biobank	rs80356701
1000 genomes	rs80356701
hgdp	rs80356701
ensembl	rs80356701
geneview	rs80356701
scholar	rs80356701
google	rs80356701
pharmgkb	rs80356701
gwascentral	rs80356701
openSNP	rs80356701
23andMe	rs80356701
SNPshot	rs80356701
SNPdbe	rs80356701
MSV3d	rs80356701
GWAS Ctlg	rs80356701

Max Magnitude

4

ClinVar
Risk	rs80356701(C;C)
Alt	rs80356701(C;C)
Reference	Rs80356701(T;T)
Significance	Pathogenic
Disease	Myotonia congenita Congenital myotonia Congenital myotonia not provided
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form not provided
Reversed	0
HGVS	NC_000007.13:g.143027931T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020118.1, RCV000477848.1, RCV000483128.1,