rs80356698

Orientation

plus

Stabilized

plus

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

Make rs80356698(CTCA;CTCA)

Reference

GRCh38 38.1/141

Chromosome

7

Position

143350571

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs80356698
dbSNP (classic)	rs80356698
ClinGen	rs80356698
ebi	rs80356698
HLI	rs80356698
Exac	rs80356698
Gnomad	rs80356698
Varsome	rs80356698
LitVar	rs80356698
Map	rs80356698
PheGenI	rs80356698
Biobank	rs80356698
1000 genomes	rs80356698
hgdp	rs80356698
ensembl	rs80356698
geneview	rs80356698
scholar	rs80356698
google	rs80356698
pharmgkb	rs80356698
gwascentral	rs80356698
openSNP	rs80356698
23andMe	rs80356698
SNPshot	rs80356698
SNPdbe	rs80356698
MSV3d	rs80356698
GWAS Ctlg	rs80356698

Max Magnitude

4

ClinVar
Risk	rs80356698(CTCA;CTCA)
Alt	rs80356698(CTCA;CTCA)
Reference	Rs80356698(-;-)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143047664_143047665insCTCA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020106.1,