rs137852803

Orientation

minus

Stabilized

minus

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

Make rs137852803(G;T)

Make rs137852803(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174750143

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852803
dbSNP (classic)	rs137852803
ClinGen	rs137852803
ebi	rs137852803
HLI	rs137852803
Exac	rs137852803
Gnomad	rs137852803
Varsome	rs137852803
LitVar	rs137852803
Map	rs137852803
PheGenI	rs137852803
Biobank	rs137852803
1000 genomes	rs137852803
hgdp	rs137852803
ensembl	rs137852803
geneview	rs137852803
scholar	rs137852803
google	rs137852803
pharmgkb	rs137852803
gwascentral	rs137852803
openSNP	rs137852803
23andMe	rs137852803
SNPshot	rs137852803
SNPdbe	rs137852803
MSV3d	rs137852803
GWAS Ctlg	rs137852803

Max Magnitude

0

OMIM	100690
Desc
Variant	0006
Related	also

ClinVar
Risk	rs137852803(A;A) rs137852803(C;C) rs137852803(T;T)
Alt	rs137852803(A;A) rs137852803(C;C) rs137852803(T;T)
Reference	Rs137852803(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175614871C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020049.29,