rs147484110

Orientation

plus

Stabilized

plus

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

Make rs147484110(C;G)

Make rs147484110(G;G)

Reference

GRCh38.p2 38.2/144

Chromosome

21

Position

43774760

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs147484110
dbSNP (classic)	rs147484110
ClinGen	rs147484110
ebi	rs147484110
HLI	rs147484110
Exac	rs147484110
Gnomad	rs147484110
Varsome	rs147484110
LitVar	rs147484110
Map	rs147484110
PheGenI	rs147484110
Biobank	rs147484110
1000 genomes	rs147484110
hgdp	rs147484110
ensembl	rs147484110
geneview	rs147484110
scholar	rs147484110
google	rs147484110
pharmgkb	rs147484110
gwascentral	rs147484110
openSNP	rs147484110
23andMe	rs147484110
SNPshot	rs147484110
SNPdbe	rs147484110
MSV3d	rs147484110
GWAS Ctlg	rs147484110

Max Magnitude

0

ClinVar
Risk	rs147484110(G;G)
Alt	rs147484110(G;G)
Reference	Rs147484110(C;C)
Significance	Pathogenic
Disease	Unverricht-Lundborg syndrome not provided Epilepsy
Variation	info
Gene	CSTB
CLNDBN	Unverricht-Lundborg syndrome not provided Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)
Reversed	0
HGVS	NC_000021.8:g.45194641C>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008903.5, RCV000187278.3, RCV000194700.1,