rs121912801

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

143339527

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs121912801
dbSNP (classic)	rs121912801
ClinGen	rs121912801
ebi	rs121912801
HLI	rs121912801
Exac	rs121912801
Gnomad	rs121912801
Varsome	rs121912801
LitVar	rs121912801
Map	rs121912801
PheGenI	rs121912801
Biobank	rs121912801
1000 genomes	rs121912801
hgdp	rs121912801
ensembl	rs121912801
geneview	rs121912801
scholar	rs121912801
google	rs121912801
pharmgkb	rs121912801
gwascentral	rs121912801
openSNP	rs121912801
23andMe	rs121912801
SNPshot	rs121912801
SNPdbe	rs121912801
MSV3d	rs121912801
GWAS Ctlg	rs121912801

Max Magnitude

6

OMIM	118425
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs121912801(T;T)
Alt	Rs121912801(T;T)
Reference	Rs121912801(G;G)
Significance	Pathogenic
Disease	Congenital myotonia
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form
Reversed	0
HGVS	NC_000007.13:g.143036620G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019087.24,