rs80356703

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

143331265

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356703
dbSNP (classic)	rs80356703
ClinGen	rs80356703
ebi	rs80356703
HLI	rs80356703
Exac	rs80356703
Gnomad	rs80356703
Varsome	rs80356703
LitVar	rs80356703
Map	rs80356703
PheGenI	rs80356703
Biobank	rs80356703
1000 genomes	rs80356703
hgdp	rs80356703
ensembl	rs80356703
geneview	rs80356703
scholar	rs80356703
google	rs80356703
pharmgkb	rs80356703
gwascentral	rs80356703
openSNP	rs80356703
23andMe	rs80356703
SNPshot	rs80356703
SNPdbe	rs80356703
MSV3d	rs80356703
GWAS Ctlg	rs80356703

Max Magnitude

6

ClinVar
Risk	Rs80356703(A;A)
Alt	Rs80356703(A;A)
Reference	Rs80356703(G;G)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143028358G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020098.1,