rs786200905

Orientation

minus

Stabilized

minus

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

Make rs786200905(A;G)

Make rs786200905(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47449174

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs786200905
dbSNP (classic)	rs786200905
ClinGen	rs786200905
ebi	rs786200905
HLI	rs786200905
Exac	rs786200905
Gnomad	rs786200905
Varsome	rs786200905
LitVar	rs786200905
Map	rs786200905
PheGenI	rs786200905
Biobank	rs786200905
1000 genomes	rs786200905
hgdp	rs786200905
ensembl	rs786200905
geneview	rs786200905
scholar	rs786200905
google	rs786200905
pharmgkb	rs786200905
gwascentral	rs786200905
openSNP	rs786200905
23andMe	rs786200905
SNPshot	rs786200905
SNPdbe	rs786200905
MSV3d	rs786200905
GWAS Ctlg	rs786200905

Max Magnitude

0

ClinVar
Risk	rs786200905(G;G)
Alt	rs786200905(G;G)
Reference	Rs786200905(A;A)
Significance	Pathogenic
Disease	Myasthenic syndrome Congenital myasthenic syndrome
Variation	info
Gene	RAPSN
CLNDBN	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency Congenital myasthenic syndrome
Reversed	1
HGVS	NC_000011.9:g.47470726T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008517.6, RCV000235034.1,