rs762754992

Orientation

plus

Stabilized

plus

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

Make rs762754992(C;T)

Make rs762754992(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

143341995

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs762754992
dbSNP (classic)	rs762754992
ClinGen	rs762754992
ebi	rs762754992
HLI	rs762754992
Exac	rs762754992
Gnomad	rs762754992
Varsome	rs762754992
LitVar	rs762754992
Map	rs762754992
PheGenI	rs762754992
Biobank	rs762754992
1000 genomes	rs762754992
hgdp	rs762754992
ensembl	rs762754992
geneview	rs762754992
scholar	rs762754992
google	rs762754992
pharmgkb	rs762754992
gwascentral	rs762754992
openSNP	rs762754992
23andMe	rs762754992
SNPshot	rs762754992
SNPdbe	rs762754992
MSV3d	rs762754992
GWAS Ctlg	rs762754992

Max Magnitude

0

ClinVar
Risk	rs762754992(T;T)
Alt	rs762754992(T;T)
Reference	Rs762754992(C;C)
Significance	Pathogenic
Disease	Myotonia congenita
Variation	info
Gene	CLCN1
CLNDBN	Myotonia congenita
Reversed	0
HGVS	NC_000007.13:g.143039088C>T
CLNSRC
CLNACC	RCV000194136.1,