rs80356691

Orientation

plus

Stabilized

plus

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

Make rs80356691(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143330847

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356691
dbSNP (classic)	rs80356691
ClinGen	rs80356691
ebi	rs80356691
HLI	rs80356691
Exac	rs80356691
Gnomad	rs80356691
Varsome	rs80356691
LitVar	rs80356691
Map	rs80356691
PheGenI	rs80356691
Biobank	rs80356691
1000 genomes	rs80356691
hgdp	rs80356691
ensembl	rs80356691
geneview	rs80356691
scholar	rs80356691
google	rs80356691
pharmgkb	rs80356691
gwascentral	rs80356691
openSNP	rs80356691
23andMe	rs80356691
SNPshot	rs80356691
SNPdbe	rs80356691
MSV3d	rs80356691
GWAS Ctlg	rs80356691

Max Magnitude

4

ClinVar
Risk	rs80356691(T;T)
Alt	rs80356691(T;T)
Reference	Rs80356691(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143027940C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020119.1,