rs137852799

Orientation

minus

Stabilized

minus

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

Make rs137852799(A;A)

Make rs137852799(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174754233

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852799
dbSNP (classic)	rs137852799
ClinGen	rs137852799
ebi	rs137852799
HLI	rs137852799
Exac	rs137852799
Gnomad	rs137852799
Varsome	rs137852799
LitVar	rs137852799
Map	rs137852799
PheGenI	rs137852799
Biobank	rs137852799
1000 genomes	rs137852799
hgdp	rs137852799
ensembl	rs137852799
geneview	rs137852799
scholar	rs137852799
google	rs137852799
pharmgkb	rs137852799
gwascentral	rs137852799
openSNP	rs137852799
23andMe	rs137852799
SNPshot	rs137852799
SNPdbe	rs137852799
MSV3d	rs137852799
GWAS Ctlg	rs137852799

Max Magnitude

0

OMIM	100690
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852799(A;A) rs137852799(C;C)
Alt	rs137852799(A;A) rs137852799(C;C)
Reference	Rs137852799(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175618961C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020045.29,