rs121912807

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

143339534

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs121912807
dbSNP (classic)	rs121912807
ClinGen	rs121912807
ebi	rs121912807
HLI	rs121912807
Exac	rs121912807
Gnomad	rs121912807
Varsome	rs121912807
LitVar	rs121912807
Map	rs121912807
PheGenI	rs121912807
Biobank	rs121912807
1000 genomes	rs121912807
hgdp	rs121912807
ensembl	rs121912807
geneview	rs121912807
scholar	rs121912807
google	rs121912807
pharmgkb	rs121912807
gwascentral	rs121912807
openSNP	rs121912807
23andMe	rs121912807
SNPshot	rs121912807
SNPdbe	rs121912807
MSV3d	rs121912807
GWAS Ctlg	rs121912807

Max Magnitude

6

OMIM	118425
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs121912807(A;A)
Alt	Rs121912807(A;A)
Reference	Rs121912807(G;G)
Significance	Pathogenic
Disease	Congenital myotonia
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form
Reversed	0
HGVS	NC_000007.13:g.143036627G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000019096.28,