rs762281715

plus

Geno	Mag	Summary
(A;A)	7.8	Schwartz Jampel syndrome type 1
(A;G)	3	Carrier for a Schwartz Jampel syndrome mutation
(G;G)	0	common in clinvar

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

21833551

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs762281715
dbSNP (classic)	rs762281715
ClinGen	rs762281715
ebi	rs762281715
HLI	rs762281715
Exac	rs762281715
Gnomad	rs762281715
Varsome	rs762281715
LitVar	rs762281715
Map	rs762281715
PheGenI	rs762281715
Biobank	rs762281715
1000 genomes	rs762281715
hgdp	rs762281715
ensembl	rs762281715
geneview	rs762281715
scholar	rs762281715
google	rs762281715
pharmgkb	rs762281715
gwascentral	rs762281715
openSNP	rs762281715
23andMe	rs762281715
SNPshot	rs762281715
SNPdbe	rs762281715
MSV3d	rs762281715
GWAS Ctlg	rs762281715

Max Magnitude

7.8

aka c.10894C>T, p.Arg3632Ter and R3632X

Considered pathogenic for Schwartz Jampel syndrome type 1 and Lethal Kniest-like syndrome (DDSH) in ClinVar; note however that the first is inherited recessively while the latter is usually considered to be inherited dominantly.

ClinVar
Risk	Rs762281715(A;A)
Alt	Rs762281715(A;A)
Reference	Rs762281715(G;G)
Significance	Pathogenic
Disease	Schwartz Jampel syndrome type 1 Lethal Kniest-like syndrome
Variation	info
Gene	HSPG2
CLNDBN	Schwartz Jampel syndrome type 1 Lethal Kniest-like syndrome
Reversed	0
HGVS	NC_000001.10:g.22160044G>A
CLNSRC
CLNACC	RCV000318334.1, RCV000375151.1,