rs137852806

Orientation

minus

Stabilized

minus

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

Make rs137852806(C;C)

Make rs137852806(C;T)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174750122

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852806
dbSNP (classic)	rs137852806
ClinGen	rs137852806
ebi	rs137852806
HLI	rs137852806
Exac	rs137852806
Gnomad	rs137852806
Varsome	rs137852806
LitVar	rs137852806
Map	rs137852806
PheGenI	rs137852806
Biobank	rs137852806
1000 genomes	rs137852806
hgdp	rs137852806
ensembl	rs137852806
geneview	rs137852806
scholar	rs137852806
google	rs137852806
pharmgkb	rs137852806
gwascentral	rs137852806
openSNP	rs137852806
23andMe	rs137852806
SNPshot	rs137852806
SNPdbe	rs137852806
MSV3d	rs137852806
GWAS Ctlg	rs137852806

Max Magnitude

0

OMIM	100690
Desc
Variant	0009
Related	also

ClinVar
Risk	rs137852806(C;C)
Alt	rs137852806(C;C)
Reference	Rs137852806(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.175614850A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020052.29,