rs2229475

Orientation

minus

Stabilized

minus

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

Make rs2229475(A;A)

Reference

GRCh38 38.1/142

Chromosome

1

Position

21855402

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs2229475
dbSNP (classic)	rs2229475
ClinGen	rs2229475
ebi	rs2229475
HLI	rs2229475
Exac	rs2229475
Gnomad	rs2229475
Varsome	rs2229475
LitVar	rs2229475
Map	rs2229475
PheGenI	rs2229475
Biobank	rs2229475
1000 genomes	rs2229475
hgdp	rs2229475
ensembl	rs2229475
geneview	rs2229475
scholar	rs2229475
google	rs2229475
pharmgkb	rs2229475
gwascentral	rs2229475
openSNP	rs2229475
23andMe	rs2229475
SNPshot	rs2229475
SNPdbe	rs2229475
MSV3d	rs2229475
GWAS Ctlg	rs2229475

GMAF

0.0225

Max Magnitude

0

ClinVar
Risk	rs2229475(A;A)
Alt	rs2229475(A;A)
Reference	Rs2229475(G;G)
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.22181895C>T
CLNSRC
CLNACC	RCV000339647.1, RCV000375538.1,