rs80356695

Orientation

plus

Stabilized

plus

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

Make rs80356695(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143339289

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356695
dbSNP (classic)	rs80356695
ClinGen	rs80356695
ebi	rs80356695
HLI	rs80356695
Exac	rs80356695
Gnomad	rs80356695
Varsome	rs80356695
LitVar	rs80356695
Map	rs80356695
PheGenI	rs80356695
Biobank	rs80356695
1000 genomes	rs80356695
hgdp	rs80356695
ensembl	rs80356695
geneview	rs80356695
scholar	rs80356695
google	rs80356695
pharmgkb	rs80356695
gwascentral	rs80356695
openSNP	rs80356695
23andMe	rs80356695
SNPshot	rs80356695
SNPdbe	rs80356695
MSV3d	rs80356695
GWAS Ctlg	rs80356695

Max Magnitude

4

ClinVar
Risk	rs80356695(A;A)
Alt	rs80356695(A;A)
Reference	Rs80356695(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143036382C>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020100.1,