rs149729531

Orientation

plus

Stabilized

plus

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

Make rs149729531(C;G)

Make rs149729531(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

143321432

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs149729531
dbSNP (classic)	rs149729531
ClinGen	rs149729531
ebi	rs149729531
HLI	rs149729531
Exac	rs149729531
Gnomad	rs149729531
Varsome	rs149729531
LitVar	rs149729531
Map	rs149729531
PheGenI	rs149729531
Biobank	rs149729531
1000 genomes	rs149729531
hgdp	rs149729531
ensembl	rs149729531
geneview	rs149729531
scholar	rs149729531
google	rs149729531
pharmgkb	rs149729531
gwascentral	rs149729531
openSNP	rs149729531
23andMe	rs149729531
SNPshot	rs149729531
SNPdbe	rs149729531
MSV3d	rs149729531
GWAS Ctlg	rs149729531

Max Magnitude

0

ClinVar
Risk	rs149729531(G;G)
Alt	rs149729531(G;G)
Reference	Rs149729531(C;C)
Significance	Pathogenic
Disease	Congenital myotonia Congenital myotonia Myotonia congenita Myotonia not specified
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal dominant form Congenital myotonia, autosomal recessive form Myotonia congenita Myotonia not specified
Reversed	0
HGVS	NC_000007.13:g.143018525C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000191068.1, RCV000191070.1, RCV000343760.1, RCV000415172.1, RCV000479583.1,