rs863224912

Orientation

minus

Stabilized

minus

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

Make rs863224912(A;G)

Make rs863224912(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47447819

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs863224912
dbSNP (classic)	rs863224912
ClinGen	rs863224912
ebi	rs863224912
HLI	rs863224912
Exac	rs863224912
Gnomad	rs863224912
Varsome	rs863224912
LitVar	rs863224912
Map	rs863224912
PheGenI	rs863224912
Biobank	rs863224912
1000 genomes	rs863224912
hgdp	rs863224912
ensembl	rs863224912
geneview	rs863224912
scholar	rs863224912
google	rs863224912
pharmgkb	rs863224912
gwascentral	rs863224912
openSNP	rs863224912
23andMe	rs863224912
SNPshot	rs863224912
SNPdbe	rs863224912
MSV3d	rs863224912
GWAS Ctlg	rs863224912

Max Magnitude

0

ClinVar
Risk	rs863224912(G;G)
Alt	rs863224912(G;G)
Reference	Rs863224912(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.47469371T>C
CLNSRC
CLNACC	RCV000200529.1,