rs989994

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	0	Considered benign in ClinVar
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

1

Position

21880156

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs989994
dbSNP (classic)	rs989994
ClinGen	rs989994
ebi	rs989994
HLI	rs989994
Exac	rs989994
Gnomad	rs989994
Varsome	rs989994
LitVar	rs989994
Map	rs989994
PheGenI	rs989994
Biobank	rs989994
1000 genomes	rs989994
hgdp	rs989994
ensembl	rs989994
geneview	rs989994
scholar	rs989994
google	rs989994
pharmgkb	rs989994
gwascentral	rs989994
openSNP	rs989994
23andMe	rs989994
SNPshot	rs989994
SNPdbe	rs989994
MSV3d	rs989994
GWAS Ctlg	rs989994

GMAF

0.05372

Max Magnitude

0

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

ClinVar
Risk	Rs989994(C;C) rs989994(G;G)
Alt	Rs989994(C;C) rs989994(G;G)
Reference	Rs989994(T;T)
Significance	Non-pathogenic
Disease	Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Variation	info
Gene	HSPG2
CLNDBN	Schwartz Jampel syndrome type 1 Dyssegmental Dysplasia
Reversed	0
HGVS	NC_000001.10:g.22206649T>C
CLNSRC
CLNACC	RCV000317586.1, RCV000372262.1,