rs121909254

Orientation

minus

Stabilized

minus

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

Make rs121909254(A;A)

Make rs121909254(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

47448832

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs121909254
dbSNP (classic)	rs121909254
ClinGen	rs121909254
ebi	rs121909254
HLI	rs121909254
Exac	rs121909254
Gnomad	rs121909254
Varsome	rs121909254
LitVar	rs121909254
Map	rs121909254
PheGenI	rs121909254
Biobank	rs121909254
1000 genomes	rs121909254
hgdp	rs121909254
ensembl	rs121909254
geneview	rs121909254
scholar	rs121909254
google	rs121909254
pharmgkb	rs121909254
gwascentral	rs121909254
openSNP	rs121909254
23andMe	rs121909254
SNPshot	rs121909254
SNPdbe	rs121909254
MSV3d	rs121909254
GWAS Ctlg	rs121909254

Max Magnitude

0

OMIM	601592
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121909254(A;A) rs121909254(C;C) rs121909254(T;T)
Alt	rs121909254(A;A) rs121909254(C;C) rs121909254(T;T)
Reference	Rs121909254(G;G)
Significance	Pathogenic
Disease	Myasthenic syndrome
Variation	info
Gene	RAPSN
CLNDBN	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Reversed	1
HGVS	NC_000011.9:g.47470384C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008521.4,