rs886039909

Orientation

minus

Stabilized

minus

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

21864095

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs886039909
dbSNP (classic)	rs886039909
ClinGen	rs886039909
ebi	rs886039909
HLI	rs886039909
Exac	rs886039909
Gnomad	rs886039909
Varsome	rs886039909
LitVar	rs886039909
Map	rs886039909
PheGenI	rs886039909
Biobank	rs886039909
1000 genomes	rs886039909
hgdp	rs886039909
ensembl	rs886039909
geneview	rs886039909
scholar	rs886039909
google	rs886039909
pharmgkb	rs886039909
gwascentral	rs886039909
openSNP	rs886039909
23andMe	rs886039909
SNPshot	rs886039909
SNPdbe	rs886039909
MSV3d	rs886039909
GWAS Ctlg	rs886039909

Max Magnitude

7.8

aka c.4740+5G>A

ClinVar
Risk	Rs886039909(A;A)
Alt	Rs886039909(A;A)
Reference	Rs886039909(G;G)
Significance	Probable-Pathogenic
Disease	Schwartz Jampel syndrome type 1
Variation	info
Gene	HSPG2
CLNDBN	Schwartz Jampel syndrome type 1
Reversed	1
HGVS	NC_000001.10:g.22190588C>T
CLNSRC
CLNACC	RCV000256461.1,