rs1057518917

Orientation

plus

Stabilized

plus

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

Make rs1057518917(C;T)

Make rs1057518917(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

7

Position

143351633

Gene

CLCN1

is a	snp
is	mentioned by
dbSNP	rs1057518917
dbSNP (classic)	rs1057518917
ClinGen	rs1057518917
ebi	rs1057518917
HLI	rs1057518917
Exac	rs1057518917
Gnomad	rs1057518917
Varsome	rs1057518917
LitVar	rs1057518917
Map	rs1057518917
PheGenI	rs1057518917
Biobank	rs1057518917
1000 genomes	rs1057518917
hgdp	rs1057518917
ensembl	rs1057518917
geneview	rs1057518917
scholar	rs1057518917
google	rs1057518917
pharmgkb	rs1057518917
gwascentral	rs1057518917
openSNP	rs1057518917
23andMe	rs1057518917
SNPshot	rs1057518917
SNPdbe	rs1057518917
MSV3d	rs1057518917
GWAS Ctlg	rs1057518917

Max Magnitude

0

ClinVar
Risk	rs1057518917(T;T)
Alt	rs1057518917(T;T)
Reference	Rs1057518917(C;C)
Significance	Pathogenic
Disease	Myotonia
Variation	info
Gene	CLCN1
CLNDBN	Myotonia
Reversed	0
HGVS	NC_000007.13:g.143048726C>T
CLNSRC
CLNACC	RCV000415403.1,