rs80356688

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

143324486

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356688
dbSNP (classic)	rs80356688
ClinGen	rs80356688
ebi	rs80356688
HLI	rs80356688
Exac	rs80356688
Gnomad	rs80356688
Varsome	rs80356688
LitVar	rs80356688
Map	rs80356688
PheGenI	rs80356688
Biobank	rs80356688
1000 genomes	rs80356688
hgdp	rs80356688
ensembl	rs80356688
geneview	rs80356688
scholar	rs80356688
google	rs80356688
pharmgkb	rs80356688
gwascentral	rs80356688
openSNP	rs80356688
23andMe	rs80356688
SNPshot	rs80356688
SNPdbe	rs80356688
MSV3d	rs80356688
GWAS Ctlg	rs80356688

Max Magnitude

6

ClinVar
Risk	Rs80356688(T;T)
Alt	Rs80356688(T;T)
Reference	Rs80356688(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143021579C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020115.1,