rs74315442

Orientation

minus

Stabilized

minus

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

Make rs74315442(C;T)

Make rs74315442(T;T)

Reference

GRCh38 38.1/141

Chromosome

21

Position

43774297

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs74315442
dbSNP (classic)	rs74315442
ClinGen	rs74315442
ebi	rs74315442
HLI	rs74315442
Exac	rs74315442
Gnomad	rs74315442
Varsome	rs74315442
LitVar	rs74315442
Map	rs74315442
PheGenI	rs74315442
Biobank	rs74315442
1000 genomes	rs74315442
hgdp	rs74315442
ensembl	rs74315442
geneview	rs74315442
scholar	rs74315442
google	rs74315442
pharmgkb	rs74315442
gwascentral	rs74315442
openSNP	rs74315442
23andMe	rs74315442
SNPshot	rs74315442
SNPdbe	rs74315442
MSV3d	rs74315442
GWAS Ctlg	rs74315442

Max Magnitude

0

OMIM	601145
Desc
Variant	0002
Related	also

ClinVar
Risk	rs74315442(T;T)
Alt	rs74315442(T;T)
Reference	Rs74315442(C;C)
Significance	Pathogenic
Disease	Unverricht-Lundborg syndrome
Variation	info
Gene	CSTB
CLNDBN	Unverricht-Lundborg syndrome
Reversed	1
HGVS	NC_000021.8:g.45194178G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000008904.5,