rs786200904

Orientation

minus

Stabilized

minus

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

Make rs786200904(-;GTTCT)

Make rs786200904(GTTCT;GTTCT)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

47442792

Gene

RAPSN

is a	snp
is	mentioned by
dbSNP	rs786200904
dbSNP (classic)	rs786200904
ClinGen	rs786200904
ebi	rs786200904
HLI	rs786200904
Exac	rs786200904
Gnomad	rs786200904
Varsome	rs786200904
LitVar	rs786200904
Map	rs786200904
PheGenI	rs786200904
Biobank	rs786200904
1000 genomes	rs786200904
hgdp	rs786200904
ensembl	rs786200904
geneview	rs786200904
scholar	rs786200904
google	rs786200904
pharmgkb	rs786200904
gwascentral	rs786200904
openSNP	rs786200904
23andMe	rs786200904
SNPshot	rs786200904
SNPdbe	rs786200904
MSV3d	rs786200904
GWAS Ctlg	rs786200904

Max Magnitude

0

ClinVar
Risk	rs786200904(GTTCT;GTTCT)
Alt	rs786200904(GTTCT;GTTCT)
Reference	Rs786200904(-;-)
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.47464345_47464349dupAGAAC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008514.4,