rs80356686

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	4	Myotonia congenita; Thomsen's disease; quite variable in degree
(G;G)	0	common in clinvar

Make rs80356686(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143321729

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356686
dbSNP (classic)	rs80356686
ClinGen	rs80356686
ebi	rs80356686
HLI	rs80356686
Exac	rs80356686
Gnomad	rs80356686
Varsome	rs80356686
LitVar	rs80356686
Map	rs80356686
PheGenI	rs80356686
Biobank	rs80356686
1000 genomes	rs80356686
hgdp	rs80356686
ensembl	rs80356686
geneview	rs80356686
scholar	rs80356686
google	rs80356686
pharmgkb	rs80356686
gwascentral	rs80356686
openSNP	rs80356686
23andMe	rs80356686
SNPshot	rs80356686
SNPdbe	rs80356686
MSV3d	rs80356686
GWAS Ctlg	rs80356686

Max Magnitude

4

ClinVar
Risk	rs80356686(A;A)
Alt	rs80356686(A;A)
Reference	Rs80356686(G;G)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143018822G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020111.1,