rs137852800

Orientation

minus

Stabilized

minus

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

Make rs137852800(C;T)

Make rs137852800(T;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174750127

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852800
dbSNP (classic)	rs137852800
ClinGen	rs137852800
ebi	rs137852800
HLI	rs137852800
Exac	rs137852800
Gnomad	rs137852800
Varsome	rs137852800
LitVar	rs137852800
Map	rs137852800
PheGenI	rs137852800
Biobank	rs137852800
1000 genomes	rs137852800
hgdp	rs137852800
ensembl	rs137852800
geneview	rs137852800
scholar	rs137852800
google	rs137852800
pharmgkb	rs137852800
gwascentral	rs137852800
openSNP	rs137852800
23andMe	rs137852800
SNPshot	rs137852800
SNPdbe	rs137852800
MSV3d	rs137852800
GWAS Ctlg	rs137852800

Max Magnitude

0

OMIM	100690
Desc
Variant	0003
Related	also

ClinVar
Risk	rs137852800(T;T)
Alt	rs137852800(T;T)
Reference	Rs137852800(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNA1
CLNDBN	Myasthenic syndrome, slow-channel congenital
Reversed	1
HGVS	NC_000002.11:g.175614855G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020046.28,