rs121912799

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	6	Myotonia congenita; quite variable in degree
(G;T)	2.5	carrier of a myotonia congenita allele; variable in degree
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

143332490

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs121912799
dbSNP (classic)	rs121912799
ClinGen	rs121912799
ebi	rs121912799
HLI	rs121912799
Exac	rs121912799
Gnomad	rs121912799
Varsome	rs121912799
LitVar	rs121912799
Map	rs121912799
PheGenI	rs121912799
Biobank	rs121912799
1000 genomes	rs121912799
hgdp	rs121912799
ensembl	rs121912799
geneview	rs121912799
scholar	rs121912799
google	rs121912799
pharmgkb	rs121912799
gwascentral	rs121912799
openSNP	rs121912799
23andMe	rs121912799
SNPshot	rs121912799
SNPdbe	rs121912799
MSV3d	rs121912799
GWAS Ctlg	rs121912799

Max Magnitude

6

OMIM	118425
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121912799(G;G)
Alt	Rs121912799(G;G)
Reference	Rs121912799(T;T)
Significance	Pathogenic
Disease	Congenital myotonia Congenital myotonia not provided
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form Congenital myotonia, autosomal dominant form not provided
Reversed	0
HGVS	NC_000007.13:g.143029583T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019083.28, RCV000184008.1, RCV000346725.1,