rs2229491

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	0	Likely to be benign according to ClinVar

Make rs2229491(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

21842308

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs2229491
dbSNP (classic)	rs2229491
ClinGen	rs2229491
ebi	rs2229491
HLI	rs2229491
Exac	rs2229491
Gnomad	rs2229491
Varsome	rs2229491
LitVar	rs2229491
Map	rs2229491
PheGenI	rs2229491
Biobank	rs2229491
1000 genomes	rs2229491
hgdp	rs2229491
ensembl	rs2229491
geneview	rs2229491
scholar	rs2229491
google	rs2229491
pharmgkb	rs2229491
gwascentral	rs2229491
openSNP	rs2229491
23andMe	rs2229491
SNPshot	rs2229491
SNPdbe	rs2229491
MSV3d	rs2229491
GWAS Ctlg	rs2229491

GMAF

0.07759

Max Magnitude

0

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

ClinVar
Risk	rs2229491(C;C) rs2229491(G;G) rs2229491(T;T)
Alt	rs2229491(C;C) rs2229491(G;G) rs2229491(T;T)
Reference	Rs2229491(A;A)
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.22168801T>C
CLNSRC
CLNACC	RCV000313160.1, RCV000370135.1,