rs767209392

Orientation

plus

Stabilized

plus

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

Make rs767209392(A;A)

Make rs767209392(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

143350637

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs767209392
dbSNP (classic)	rs767209392
ClinGen	rs767209392
ebi	rs767209392
HLI	rs767209392
Exac	rs767209392
Gnomad	rs767209392
Varsome	rs767209392
LitVar	rs767209392
Map	rs767209392
PheGenI	rs767209392
Biobank	rs767209392
1000 genomes	rs767209392
hgdp	rs767209392
ensembl	rs767209392
geneview	rs767209392
scholar	rs767209392
google	rs767209392
pharmgkb	rs767209392
gwascentral	rs767209392
openSNP	rs767209392
23andMe	rs767209392
SNPshot	rs767209392
SNPdbe	rs767209392
MSV3d	rs767209392
GWAS Ctlg	rs767209392

Max Magnitude

0

ClinVar
Risk	rs767209392(A;A)
Alt	rs767209392(A;A)
Reference	Rs767209392(G;G)
Significance	Probable-Pathogenic
Disease	Congenital myotonia
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal dominant form
Reversed	0
HGVS	NC_000007.13:g.143047730G>A
CLNSRC
CLNACC	RCV000184022.2,