rs778653296

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p7 38.3/149

Chromosome

1

Position

21851790

Gene

HSPG2

is a	snp
is	mentioned by
dbSNP	rs778653296
dbSNP (classic)	rs778653296
ClinGen	rs778653296
ebi	rs778653296
HLI	rs778653296
Exac	rs778653296
Gnomad	rs778653296
Varsome	rs778653296
LitVar	rs778653296
Map	rs778653296
PheGenI	rs778653296
Biobank	rs778653296
1000 genomes	rs778653296
hgdp	rs778653296
ensembl	rs778653296
geneview	rs778653296
scholar	rs778653296
google	rs778653296
pharmgkb	rs778653296
gwascentral	rs778653296
openSNP	rs778653296
23andMe	rs778653296
SNPshot	rs778653296
SNPdbe	rs778653296
MSV3d	rs778653296
GWAS Ctlg	rs778653296

Max Magnitude

7.8

aka c.7006+1G>A

ClinVar
Risk	Rs778653296(A;A) rs778653296(T;T)
Alt	Rs778653296(A;A) rs778653296(T;T)
Reference	Rs778653296(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	HSPG2
CLNDBN	not provided
Reversed	0
HGVS	NC_000001.10:g.22178283C>T
CLNSRC
CLNACC	RCV000254867.1,