rs137852808

minus

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

Make rs137852808(C;G)

Make rs137852808(G;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174748184

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852808
dbSNP (classic)	rs137852808
ClinGen	rs137852808
ebi	rs137852808
HLI	rs137852808
Exac	rs137852808
Gnomad	rs137852808
Varsome	rs137852808
LitVar	rs137852808
Map	rs137852808
PheGenI	rs137852808
Biobank	rs137852808
1000 genomes	rs137852808
hgdp	rs137852808
ensembl	rs137852808
geneview	rs137852808
scholar	rs137852808
google	rs137852808
pharmgkb	rs137852808
gwascentral	rs137852808
openSNP	rs137852808
23andMe	rs137852808
SNPshot	rs137852808
SNPdbe	rs137852808
MSV3d	rs137852808
GWAS Ctlg	rs137852808

Max Magnitude

0

OMIM	100690
Desc
Variant	0012
Related	also

[PMID 22688219 ] Transgenic mouse model reveals an unsuspected role of the acetylcholine receptor in statin-induced neuromuscular adverse drug reactions

ClinVar
Risk	rs137852808(G;G)
Alt	rs137852808(G;G)
Reference	Rs137852808(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175612912G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020055.29,