rs142539932

Orientation

plus

Stabilized

plus

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

Make rs142539932(C;T)

Make rs142539932(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

143351924

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs142539932
dbSNP (classic)	rs142539932
ClinGen	rs142539932
ebi	rs142539932
HLI	rs142539932
Exac	rs142539932
Gnomad	rs142539932
Varsome	rs142539932
LitVar	rs142539932
Map	rs142539932
PheGenI	rs142539932
Biobank	rs142539932
1000 genomes	rs142539932
hgdp	rs142539932
ensembl	rs142539932
geneview	rs142539932
scholar	rs142539932
google	rs142539932
pharmgkb	rs142539932
gwascentral	rs142539932
openSNP	rs142539932
23andMe	rs142539932
SNPshot	rs142539932
SNPdbe	rs142539932
MSV3d	rs142539932
GWAS Ctlg	rs142539932

Max Magnitude

0

ClinVar
Risk	rs142539932(T;T)
Alt	rs142539932(T;T)
Reference	Rs142539932(C;C)
Significance	Pathogenic
Disease	not provided Myotonia congenita not specified
Variation	info
Gene	CLCN1
CLNDBN	not provided Myotonia congenita not specified
Reversed	0
HGVS	NC_000007.13:g.143049017C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000180791.3, RCV000195160.1, RCV000480745.1,