rs137852805

Orientation

minus

Stabilized

minus

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

Make rs137852805(G;G)

Make rs137852805(G;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174753524

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852805
dbSNP (classic)	rs137852805
ClinGen	rs137852805
ebi	rs137852805
HLI	rs137852805
Exac	rs137852805
Gnomad	rs137852805
Varsome	rs137852805
LitVar	rs137852805
Map	rs137852805
PheGenI	rs137852805
Biobank	rs137852805
1000 genomes	rs137852805
hgdp	rs137852805
ensembl	rs137852805
geneview	rs137852805
scholar	rs137852805
google	rs137852805
pharmgkb	rs137852805
gwascentral	rs137852805
openSNP	rs137852805
23andMe	rs137852805
SNPshot	rs137852805
SNPdbe	rs137852805
MSV3d	rs137852805
GWAS Ctlg	rs137852805

Max Magnitude

0

OMIM	100690
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852805(G;G)
Alt	rs137852805(G;G)
Reference	Rs137852805(T;T)
Significance	Pathogenic
Disease	Congenital myasthenic syndrome 1B
Variation	info
Gene	CHRNA1
CLNDBN	Congenital myasthenic syndrome 1B, fast-channel
Reversed	1
HGVS	NC_000002.11:g.175618252A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020051.29,