rs745452577

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	1	Of uncertain significance relative to Schwartz Jampel syndrome according to ClinVar
(G;G)	0	common in clinvar

Make rs745452577(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

1

Position

21865798

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs745452577
dbSNP (classic)	rs745452577
ClinGen	rs745452577
ebi	rs745452577
HLI	rs745452577
Exac	rs745452577
Gnomad	rs745452577
Varsome	rs745452577
LitVar	rs745452577
Map	rs745452577
PheGenI	rs745452577
Biobank	rs745452577
1000 genomes	rs745452577
hgdp	rs745452577
ensembl	rs745452577
geneview	rs745452577
scholar	rs745452577
google	rs745452577
pharmgkb	rs745452577
gwascentral	rs745452577
openSNP	rs745452577
23andMe	rs745452577
SNPshot	rs745452577
SNPdbe	rs745452577
MSV3d	rs745452577
GWAS Ctlg	rs745452577

Max Magnitude

1

ClinVar
Risk	rs745452577(A;A)
Alt	rs745452577(A;A)
Reference	Rs745452577(G;G)
Significance	Probable-Pathogenic
Disease	Childhood-Onset Schizophrenia Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Variation	info
Gene	HSPG2
CLNDBN	Childhood-Onset Schizophrenia Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Reversed	0
HGVS	NC_000001.10:g.22192291G>A
CLNSRC
CLNACC	RCV000202344.1, RCV000284010.1, RCV000336696.1,