rs864309482

Orientation

minus

Stabilized

minus

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

Make rs864309482(AA;AA)

Make rs864309482(AA;TAGAGTGTGGGCCTCAGGAG)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43774637

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs864309482
dbSNP (classic)	rs864309482
ClinGen	rs864309482
ebi	rs864309482
HLI	rs864309482
Exac	rs864309482
Gnomad	rs864309482
Varsome	rs864309482
LitVar	rs864309482
Map	rs864309482
PheGenI	rs864309482
Biobank	rs864309482
1000 genomes	rs864309482
hgdp	rs864309482
ensembl	rs864309482
geneview	rs864309482
scholar	rs864309482
google	rs864309482
pharmgkb	rs864309482
gwascentral	rs864309482
openSNP	rs864309482
23andMe	rs864309482
SNPshot	rs864309482
SNPdbe	rs864309482
MSV3d	rs864309482
GWAS Ctlg	rs864309482

Max Magnitude

0

ClinVar
Risk	rs864309482(AA;AA)
Alt	rs864309482(AA;AA)
Reference	Rs864309482(TAGAGTGTGGGCCTCAGGAG;TAGAGTGTGGGCCTCAGGAG)
Significance	Pathogenic
Disease	Unverricht-Lundborg syndrome
Variation	info
Gene	CSTB
CLNDBN	Unverricht-Lundborg syndrome
Reversed	1
HGVS	NC_000021.8:g.45194518_45194537del20insTT
CLNSRC
CLNACC	RCV000202486.1,