rs137852801

Orientation

minus

Stabilized

minus

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

Make rs137852801(A;A)

Make rs137852801(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174754242

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852801
dbSNP (classic)	rs137852801
ClinGen	rs137852801
ebi	rs137852801
HLI	rs137852801
Exac	rs137852801
Gnomad	rs137852801
Varsome	rs137852801
LitVar	rs137852801
Map	rs137852801
PheGenI	rs137852801
Biobank	rs137852801
1000 genomes	rs137852801
hgdp	rs137852801
ensembl	rs137852801
geneview	rs137852801
scholar	rs137852801
google	rs137852801
pharmgkb	rs137852801
gwascentral	rs137852801
openSNP	rs137852801
23andMe	rs137852801
SNPshot	rs137852801
SNPdbe	rs137852801
MSV3d	rs137852801
GWAS Ctlg	rs137852801

Max Magnitude

0

OMIM	100690
Desc
Variant	0004
Related	also

ClinVar
Risk	rs137852801(A;A)
Alt	rs137852801(A;A)
Reference	Rs137852801(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175618970C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020047.28,