rs137852804

Orientation

minus

Stabilized

minus

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

Make rs137852804(A;A)

Make rs137852804(A;G)

Reference

GRCh38 38.1/141

Chromosome

2

Position

174750035

Gene

CHRNA1

is a	snp
is	mentioned by
dbSNP	rs137852804
dbSNP (classic)	rs137852804
ClinGen	rs137852804
ebi	rs137852804
HLI	rs137852804
Exac	rs137852804
Gnomad	rs137852804
Varsome	rs137852804
LitVar	rs137852804
Map	rs137852804
PheGenI	rs137852804
Biobank	rs137852804
1000 genomes	rs137852804
hgdp	rs137852804
ensembl	rs137852804
geneview	rs137852804
scholar	rs137852804
google	rs137852804
pharmgkb	rs137852804
gwascentral	rs137852804
openSNP	rs137852804
23andMe	rs137852804
SNPshot	rs137852804
SNPdbe	rs137852804
MSV3d	rs137852804
GWAS Ctlg	rs137852804

Max Magnitude

0

OMIM	100690
Desc
Variant	0007
Related	also

ClinVar
Risk	rs137852804(A;A)
Alt	rs137852804(A;A)
Reference	Rs137852804(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.175614763C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020050.30,