rs80356693

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Myotonia congenita; quite variable in degree
(T;T)	6	Myotonia congenita; quite variable in degree

Reference

GRCh38 38.1/141

Chromosome

7

Position

143339263

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356693
dbSNP (classic)	rs80356693
ClinGen	rs80356693
ebi	rs80356693
HLI	rs80356693
Exac	rs80356693
Gnomad	rs80356693
Varsome	rs80356693
LitVar	rs80356693
Map	rs80356693
PheGenI	rs80356693
Biobank	rs80356693
1000 genomes	rs80356693
hgdp	rs80356693
ensembl	rs80356693
geneview	rs80356693
scholar	rs80356693
google	rs80356693
pharmgkb	rs80356693
gwascentral	rs80356693
openSNP	rs80356693
23andMe	rs80356693
SNPshot	rs80356693
SNPdbe	rs80356693
MSV3d	rs80356693
GWAS Ctlg	rs80356693

Max Magnitude

6

ClinVar
Risk	Rs80356693(T;T)
Alt	Rs80356693(T;T)
Reference	Rs80356693(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143036356C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020099.1,