rs863224911

Orientation

minus

Stabilized

minus

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

Make rs863224911(A;G)

Make rs863224911(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47441694

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs863224911
dbSNP (classic)	rs863224911
ClinGen	rs863224911
ebi	rs863224911
HLI	rs863224911
Exac	rs863224911
Gnomad	rs863224911
Varsome	rs863224911
LitVar	rs863224911
Map	rs863224911
PheGenI	rs863224911
Biobank	rs863224911
1000 genomes	rs863224911
hgdp	rs863224911
ensembl	rs863224911
geneview	rs863224911
scholar	rs863224911
google	rs863224911
pharmgkb	rs863224911
gwascentral	rs863224911
openSNP	rs863224911
23andMe	rs863224911
SNPshot	rs863224911
SNPdbe	rs863224911
MSV3d	rs863224911
GWAS Ctlg	rs863224911

Max Magnitude

0

ClinVar
Risk	rs863224911(G;G)
Alt	rs863224911(G;G)
Reference	Rs863224911(A;A)
Significance	Probable-Pathogenic
Disease	Myasthenic syndrome Pena-Shokeir syndrome type I
Variation	info
Gene	RAPSN
CLNDBN	Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency Pena-Shokeir syndrome type I
Reversed	1
HGVS	NC_000011.9:g.47463246T>C
CLNSRC
CLNACC	RCV000200529.1,