rs137852811

Orientation

plus

Stabilized

plus

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

Make rs137852811(A;A)

Make rs137852811(A;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7454329

Gene

CHRNB1

is a	snp
is	mentioned by
dbSNP	rs137852811
dbSNP (classic)	rs137852811
ClinGen	rs137852811
ebi	rs137852811
HLI	rs137852811
Exac	rs137852811
Gnomad	rs137852811
Varsome	rs137852811
LitVar	rs137852811
Map	rs137852811
PheGenI	rs137852811
Biobank	rs137852811
1000 genomes	rs137852811
hgdp	rs137852811
ensembl	rs137852811
geneview	rs137852811
scholar	rs137852811
google	rs137852811
pharmgkb	rs137852811
gwascentral	rs137852811
openSNP	rs137852811
23andMe	rs137852811
SNPshot	rs137852811
SNPdbe	rs137852811
MSV3d	rs137852811
GWAS Ctlg	rs137852811

Max Magnitude

0

OMIM	100710
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852811(A;A)
Alt	rs137852811(A;A)
Reference	Rs137852811(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	CHRNB1
CLNDBN	Myasthenic syndrome, congenital, 2a, slow-channel
Reversed	0
HGVS	NC_000017.10:g.7357648C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000020041.29,