rs104894293

Orientation

minus

Stabilized

minus

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

Make rs104894293(C;C)

Make rs104894293(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47441675

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs104894293
dbSNP (classic)	rs104894293
ClinGen	rs104894293
ebi	rs104894293
HLI	rs104894293
Exac	rs104894293
Gnomad	rs104894293
Varsome	rs104894293
LitVar	rs104894293
Map	rs104894293
PheGenI	rs104894293
Biobank	rs104894293
1000 genomes	rs104894293
hgdp	rs104894293
ensembl	rs104894293
geneview	rs104894293
scholar	rs104894293
google	rs104894293
pharmgkb	rs104894293
gwascentral	rs104894293
openSNP	rs104894293
23andMe	rs104894293
SNPshot	rs104894293
SNPdbe	rs104894293
MSV3d	rs104894293
GWAS Ctlg	rs104894293

Max Magnitude

0

OMIM	601592
Desc
Variant	0007
Related	also

ClinVar
Risk	rs104894293(C;C)
Alt	rs104894293(C;C)
Reference	Rs104894293(T;T)
Significance	Pathogenic
Disease	Myasthenic syndrome Myasthenic syndrome
Variation	info
Gene	RAPSN
CLNDBN	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
Reversed	1
HGVS	NC_000011.9:g.47463227A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008518.5, RCV000178899.1,