rs137852807

Orientation

minus

Stabilized

minus

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

Make rs137852807(C;C)

Make rs137852807(C;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174754305

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852807
dbSNP (classic)	rs137852807
ClinGen	rs137852807
ebi	rs137852807
HLI	rs137852807
Exac	rs137852807
Gnomad	rs137852807
Varsome	rs137852807
LitVar	rs137852807
Map	rs137852807
PheGenI	rs137852807
Biobank	rs137852807
1000 genomes	rs137852807
hgdp	rs137852807
ensembl	rs137852807
geneview	rs137852807
scholar	rs137852807
google	rs137852807
pharmgkb	rs137852807
gwascentral	rs137852807
openSNP	rs137852807
23andMe	rs137852807
SNPshot	rs137852807
SNPdbe	rs137852807
MSV3d	rs137852807
GWAS Ctlg	rs137852807

Max Magnitude

0

OMIM	100690
Desc
Variant	0010
Related	also

ClinVar
Risk	rs137852807(A;A) rs137852807(C;C)
Alt	rs137852807(A;A) rs137852807(C;C)
Reference	Rs137852807(G;G)
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.175619033C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020053.29,