rs121909346

Orientation

minus

Stabilized

minus

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

Make rs121909346(A;C)

Make rs121909346(C;C)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43774287

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs121909346
dbSNP (classic)	rs121909346
ClinGen	rs121909346
ebi	rs121909346
HLI	rs121909346
Exac	rs121909346
Gnomad	rs121909346
Varsome	rs121909346
LitVar	rs121909346
Map	rs121909346
PheGenI	rs121909346
Biobank	rs121909346
1000 genomes	rs121909346
hgdp	rs121909346
ensembl	rs121909346
geneview	rs121909346
scholar	rs121909346
google	rs121909346
pharmgkb	rs121909346
gwascentral	rs121909346
openSNP	rs121909346
23andMe	rs121909346
SNPshot	rs121909346
SNPdbe	rs121909346
MSV3d	rs121909346
GWAS Ctlg	rs121909346

Max Magnitude

0

OMIM	601145
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121909346(C;C)
Alt	rs121909346(C;C)
Reference	Rs121909346(A;A)
Significance	Pathogenic
Disease	Unverricht-Lundborg syndrome
Variation	info
Gene	CSTB
CLNDBN	Unverricht-Lundborg syndrome
Reversed	1
HGVS	NC_000021.8:g.45194168T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008908.4,