rs104894294

Orientation

minus

Stabilized

minus

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

Make rs104894294(C;T)

Make rs104894294(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

47447853

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs104894294
dbSNP (classic)	rs104894294
ClinGen	rs104894294
ebi	rs104894294
HLI	rs104894294
Exac	rs104894294
Gnomad	rs104894294
Varsome	rs104894294
LitVar	rs104894294
Map	rs104894294
PheGenI	rs104894294
Biobank	rs104894294
1000 genomes	rs104894294
hgdp	rs104894294
ensembl	rs104894294
geneview	rs104894294
scholar	rs104894294
google	rs104894294
pharmgkb	rs104894294
gwascentral	rs104894294
openSNP	rs104894294
23andMe	rs104894294
SNPshot	rs104894294
SNPdbe	rs104894294
MSV3d	rs104894294
GWAS Ctlg	rs104894294

Max Magnitude

0

OMIM	601592
Desc
Variant	0009
Related	also

ClinVar
Risk	rs104894294(T;T)
Alt	rs104894294(T;T)
Reference	Rs104894294(C;C)
Significance	Pathogenic
Disease	Myasthenic syndrome Myopathy
Variation	info
Gene	RAPSN
CLNDBN	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Myopathy
Reversed	1
HGVS	NC_000011.9:g.47469405G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008520.4, RCV000415079.1,