rs2229489

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;T)	0	Likely to be benign according to ClinVar
(T;T)	0	common on affy axiom data

Make rs2229489(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

21842352

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs2229489
dbSNP (classic)	rs2229489
ClinGen	rs2229489
ebi	rs2229489
HLI	rs2229489
Exac	rs2229489
Gnomad	rs2229489
Varsome	rs2229489
LitVar	rs2229489
Map	rs2229489
PheGenI	rs2229489
Biobank	rs2229489
1000 genomes	rs2229489
hgdp	rs2229489
ensembl	rs2229489
geneview	rs2229489
scholar	rs2229489
google	rs2229489
pharmgkb	rs2229489
gwascentral	rs2229489
openSNP	rs2229489
23andMe	rs2229489
SNPshot	rs2229489
SNPdbe	rs2229489
MSV3d	rs2229489
GWAS Ctlg	rs2229489

GMAF

0.0225

Max Magnitude

0

ClinVar
Risk	rs2229489(A;A)
Alt	rs2229489(A;A)
Reference	Rs2229489(T;T)
Significance	Probable-non-pathogenic
Disease	Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Variation	info
Gene	HSPG2
CLNDBN	Dyssegmental Dysplasia Schwartz Jampel syndrome type 1
Reversed	1
HGVS	NC_000001.10:g.22168845A>T
CLNSRC
CLNACC	RCV000262561.1, RCV000354940.1,