rs80356685

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	4	Myotonia congenita; Thomsen's disease; quite variable in degree

Make rs80356685(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143321744

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356685
dbSNP (classic)	rs80356685
ClinGen	rs80356685
ebi	rs80356685
HLI	rs80356685
Exac	rs80356685
Gnomad	rs80356685
Varsome	rs80356685
LitVar	rs80356685
Map	rs80356685
PheGenI	rs80356685
Biobank	rs80356685
1000 genomes	rs80356685
hgdp	rs80356685
ensembl	rs80356685
geneview	rs80356685
scholar	rs80356685
google	rs80356685
pharmgkb	rs80356685
gwascentral	rs80356685
openSNP	rs80356685
23andMe	rs80356685
SNPshot	rs80356685
SNPdbe	rs80356685
MSV3d	rs80356685
GWAS Ctlg	rs80356685

Max Magnitude

4

ClinVar
Risk	rs80356685(G;G)
Alt	rs80356685(G;G)
Reference	Rs80356685(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143018837C>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020112.1,