rs886041667

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(-;-)	7.8	Schwartz Jampel syndrome type 1
(CG;CG)	0	common in clinvar

Chromosome

1

Position

21880518

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs886041667
dbSNP (classic)	rs886041667
ClinGen	rs886041667
ebi	rs886041667
HLI	rs886041667
Exac	rs886041667
Gnomad	rs886041667
Varsome	rs886041667
LitVar	rs886041667
Map	rs886041667
PheGenI	rs886041667
Biobank	rs886041667
1000 genomes	rs886041667
hgdp	rs886041667
ensembl	rs886041667
geneview	rs886041667
scholar	rs886041667
google	rs886041667
pharmgkb	rs886041667
gwascentral	rs886041667
openSNP	rs886041667
23andMe	rs886041667
SNPshot	rs886041667
SNPdbe	rs886041667
MSV3d	rs886041667
GWAS Ctlg	rs886041667

Max Magnitude

7.8

aka c.2039_2040delCG (p.Ala680Glyfs)

ClinVar
Risk	Rs886041667(-;-)
Alt	Rs886041667(-;-)
Reference	Rs886041667(CG;CG)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	HSPG2
CLNDBN	not provided
Reversed	1
HGVS	NC_000001.10:g.22207011_22207012delCG
CLNSRC
CLNACC	RCV000286863.1,