rs797045032

Orientation

plus

Stabilized

plus

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

Make rs797045032(GG;TC)

Make rs797045032(TC;TC)

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

143321720

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs797045032
dbSNP (classic)	rs797045032
ClinGen	rs797045032
ebi	rs797045032
HLI	rs797045032
Exac	rs797045032
Gnomad	rs797045032
Varsome	rs797045032
LitVar	rs797045032
Map	rs797045032
PheGenI	rs797045032
Biobank	rs797045032
1000 genomes	rs797045032
hgdp	rs797045032
ensembl	rs797045032
geneview	rs797045032
scholar	rs797045032
google	rs797045032
pharmgkb	rs797045032
gwascentral	rs797045032
openSNP	rs797045032
23andMe	rs797045032
SNPshot	rs797045032
SNPdbe	rs797045032
MSV3d	rs797045032
GWAS Ctlg	rs797045032

Max Magnitude

0

ClinVar
Risk	rs797045032(TC;TC)
Alt	rs797045032(TC;TC)
Reference	Rs797045032(GG;GG)
Significance	Pathogenic
Disease	Congenital myotonia not provided
Variation	info
Gene	CLCN1
CLNDBN	Congenital myotonia, autosomal recessive form not provided
Reversed	0
HGVS	NC_000007.13:g.143018813_143018814delGGinsTC
CLNSRC	Baylor College of Medicine
CLNACC	RCV000191069.1, RCV000489144.1,