rs897471

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	0	Considered to be benign by ClinVar

Make rs897471(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

21864961

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs897471
dbSNP (classic)	rs897471
ClinGen	rs897471
ebi	rs897471
HLI	rs897471
Exac	rs897471
Gnomad	rs897471
Varsome	rs897471
LitVar	rs897471
Map	rs897471
PheGenI	rs897471
Biobank	rs897471
1000 genomes	rs897471
hgdp	rs897471
ensembl	rs897471
geneview	rs897471
scholar	rs897471
google	rs897471
pharmgkb	rs897471
gwascentral	rs897471
openSNP	rs897471
23andMe	rs897471
SNPshot	rs897471
SNPdbe	rs897471
MSV3d	rs897471
GWAS Ctlg	rs897471

GMAF

0.2576

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs897471(T;T)
Alt	rs897471(T;T)
Reference	Rs897471(C;C)
Significance	Non-pathogenic
Disease	Schwartz Jampel syndrome type 1 not specified Dyssegmental Dysplasia
Variation	info
Gene	HSPG2
CLNDBN	Schwartz Jampel syndrome type 1 not specified Dyssegmental Dysplasia
Reversed	1
HGVS	NC_000001.10:g.22191454G>A
CLNSRC
CLNACC	RCV000274418.1, RCV000299057.1, RCV000371265.1,