rs80356684

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;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

143320756

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356684
dbSNP (classic)	rs80356684
ClinGen	rs80356684
ebi	rs80356684
HLI	rs80356684
Exac	rs80356684
Gnomad	rs80356684
Varsome	rs80356684
LitVar	rs80356684
Map	rs80356684
PheGenI	rs80356684
Biobank	rs80356684
1000 genomes	rs80356684
hgdp	rs80356684
ensembl	rs80356684
geneview	rs80356684
scholar	rs80356684
google	rs80356684
pharmgkb	rs80356684
gwascentral	rs80356684
openSNP	rs80356684
23andMe	rs80356684
SNPshot	rs80356684
SNPdbe	rs80356684
MSV3d	rs80356684
GWAS Ctlg	rs80356684

Max Magnitude

6

ClinVar
Risk	Rs80356684(T;T)
Alt	Rs80356684(T;T)
Reference	Rs80356684(A;A)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143017849A>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020110.1,