rs80356697

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	6	Myotonia congenita; quite variable in degree
(A;T)	3	Myotonia congenita; quite variable in degree
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

7

Position

143342013

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356697
dbSNP (classic)	rs80356697
ClinGen	rs80356697
ebi	rs80356697
HLI	rs80356697
Exac	rs80356697
Gnomad	rs80356697
Varsome	rs80356697
LitVar	rs80356697
Map	rs80356697
PheGenI	rs80356697
Biobank	rs80356697
1000 genomes	rs80356697
hgdp	rs80356697
ensembl	rs80356697
geneview	rs80356697
scholar	rs80356697
google	rs80356697
pharmgkb	rs80356697
gwascentral	rs80356697
openSNP	rs80356697
23andMe	rs80356697
SNPshot	rs80356697
SNPdbe	rs80356697
MSV3d	rs80356697
GWAS Ctlg	rs80356697

Max Magnitude

6

ClinVar
Risk	Rs80356697(A;A)
Alt	Rs80356697(A;A)
Reference	Rs80356697(T;T)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143039106T>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000020104.1,