rs483353046

Orientation

minus

Stabilized

minus

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

Make rs483353046(A;A)

Make rs483353046(A;C)

Reference

GRCh38 38.1/142

Chromosome

2

Position

174753544

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs483353046
dbSNP (classic)	rs483353046
ClinGen	rs483353046
ebi	rs483353046
HLI	rs483353046
Exac	rs483353046
Gnomad	rs483353046
Varsome	rs483353046
LitVar	rs483353046
Map	rs483353046
PheGenI	rs483353046
Biobank	rs483353046
1000 genomes	rs483353046
hgdp	rs483353046
ensembl	rs483353046
geneview	rs483353046
scholar	rs483353046
google	rs483353046
pharmgkb	rs483353046
gwascentral	rs483353046
openSNP	rs483353046
23andMe	rs483353046
SNPshot	rs483353046
SNPdbe	rs483353046
MSV3d	rs483353046
GWAS Ctlg	rs483353046

Max Magnitude

0

ClinVar
Risk	rs483353046(A;A) rs483353046(T;T)
Alt	rs483353046(A;A) rs483353046(T;T)
Reference	Rs483353046(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175618272G>A; NC_000002.11:g.175618272G>T
CLNSRC	ClinVar
CLNACC	RCV000122733.3, RCV000122732.3,