rs1874792

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(G;G)	0	common in complete genomics

Reference

GRCh38 38.1/141

Chromosome

1

Position

21880742

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs1874792
dbSNP (classic)	rs1874792
ClinGen	rs1874792
ebi	rs1874792
HLI	rs1874792
Exac	rs1874792
Gnomad	rs1874792
Varsome	rs1874792
LitVar	rs1874792
Map	rs1874792
PheGenI	rs1874792
Biobank	rs1874792
1000 genomes	rs1874792
hgdp	rs1874792
ensembl	rs1874792
geneview	rs1874792
scholar	rs1874792
google	rs1874792
pharmgkb	rs1874792
gwascentral	rs1874792
openSNP	rs1874792
23andMe	rs1874792
SNPshot	rs1874792
SNPdbe	rs1874792
MSV3d	rs1874792
GWAS Ctlg	rs1874792

GMAF

0.01882

Max Magnitude

0

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

ClinVar
Risk	Rs1874792(G;G)
Alt	Rs1874792(G;G)
Reference	Rs1874792(A;A)
Significance	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.22207235T>C
CLNSRC
CLNACC	RCV000260399.1, RCV000296869.1,