rs74315443

Orientation

minus

Stabilized

minus

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

Make rs74315443(C;C)

Make rs74315443(C;G)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43776260

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs74315443
dbSNP (classic)	rs74315443
ClinGen	rs74315443
ebi	rs74315443
HLI	rs74315443
Exac	rs74315443
Gnomad	rs74315443
Varsome	rs74315443
LitVar	rs74315443
Map	rs74315443
PheGenI	rs74315443
Biobank	rs74315443
1000 genomes	rs74315443
hgdp	rs74315443
ensembl	rs74315443
geneview	rs74315443
scholar	rs74315443
google	rs74315443
pharmgkb	rs74315443
gwascentral	rs74315443
openSNP	rs74315443
23andMe	rs74315443
SNPshot	rs74315443
SNPdbe	rs74315443
MSV3d	rs74315443
GWAS Ctlg	rs74315443

Max Magnitude

0

OMIM	601145
Desc
Variant	0004
Related	also

ClinVar
Risk	rs74315443(C;C) rs74315443(T;T)
Alt	rs74315443(C;C) rs74315443(T;T)
Reference	Rs74315443(G;G)
Significance	Pathogenic
Disease	Unverricht-Lundborg syndrome
Variation	info
Gene	CSTB
CLNDBN	Unverricht-Lundborg syndrome
Reversed	1
HGVS	NC_000021.8:g.45196141C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008905.2,