rs545986367

Orientation

plus

Stabilized

plus

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

Make rs545986367(A;A)

Make rs545986367(A;G)

Reference

GRCh38.p2 38.2/147

Chromosome

21

Position

43774690

Gene

CSTB

is a	snp
is	mentioned by
dbSNP	rs545986367
dbSNP (classic)	rs545986367
ClinGen	rs545986367
ebi	rs545986367
HLI	rs545986367
Exac	rs545986367
Gnomad	rs545986367
Varsome	rs545986367
LitVar	rs545986367
Map	rs545986367
PheGenI	rs545986367
Biobank	rs545986367
1000 genomes	rs545986367
hgdp	rs545986367
ensembl	rs545986367
geneview	rs545986367
scholar	rs545986367
google	rs545986367
pharmgkb	rs545986367
gwascentral	rs545986367
openSNP	rs545986367
23andMe	rs545986367
SNPshot	rs545986367
SNPdbe	rs545986367
MSV3d	rs545986367
GWAS Ctlg	rs545986367

Max Magnitude

0

ClinVar
Risk	rs545986367(A;A)
Alt	rs545986367(A;A)
Reference	Rs545986367(G;G)
Significance	Pathogenic
Disease	not provided Unverricht-Lundborg syndrome
Variation	info
Gene	CSTB
CLNDBN	not provided Unverricht-Lundborg syndrome
Reversed	0
HGVS	NC_000021.8:g.45194571G>A
CLNSRC
CLNACC	RCV000187279.2, RCV000202565.1,