rs2229493

Orientation

minus

Stabilized

minus

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

Make rs2229493(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

21833550

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs2229493
dbSNP (classic)	rs2229493
ClinGen	rs2229493
ebi	rs2229493
HLI	rs2229493
Exac	rs2229493
Gnomad	rs2229493
Varsome	rs2229493
LitVar	rs2229493
Map	rs2229493
PheGenI	rs2229493
Biobank	rs2229493
1000 genomes	rs2229493
hgdp	rs2229493
ensembl	rs2229493
geneview	rs2229493
scholar	rs2229493
google	rs2229493
pharmgkb	rs2229493
gwascentral	rs2229493
openSNP	rs2229493
23andMe	rs2229493
SNPshot	rs2229493
SNPdbe	rs2229493
MSV3d	rs2229493
GWAS Ctlg	rs2229493

GMAF

0.0753

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2229493(A;A) rs2229493(C;C) rs2229493(T;T)
Alt	rs2229493(A;A) rs2229493(C;C) rs2229493(T;T)
Reference	Rs2229493(G;G)
Significance	Probable-non-pathogenic
Disease	Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Variation	info
Gene	HSPG2
CLNDBN	Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Reversed	1
HGVS	NC_000001.10:g.22160043C>T
CLNSRC
CLNACC	RCV000276227.1, RCV000389238.1,