rs202217420

Orientation

plus

Stabilized

plus

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

Make rs202217420(A;T)

Make rs202217420(T;T)

Reference

GRCh38.p7 38.3/149

Chromosome

7

Position

143316395

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs202217420
dbSNP (classic)	rs202217420
ClinGen	rs202217420
ebi	rs202217420
HLI	rs202217420
Exac	rs202217420
Gnomad	rs202217420
Varsome	rs202217420
LitVar	rs202217420
Map	rs202217420
PheGenI	rs202217420
Biobank	rs202217420
1000 genomes	rs202217420
hgdp	rs202217420
ensembl	rs202217420
geneview	rs202217420
scholar	rs202217420
google	rs202217420
pharmgkb	rs202217420
gwascentral	rs202217420
openSNP	rs202217420
23andMe	rs202217420
SNPshot	rs202217420
SNPdbe	rs202217420
MSV3d	rs202217420
GWAS Ctlg	rs202217420

Max Magnitude

0

ClinVar
Risk	rs202217420(T;T)
Alt	rs202217420(T;T)
Reference	Rs202217420(A;A)
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.143013488A>T
CLNSRC
CLNACC	RCV000364204.1, RCV000484389.1,