rs387906534

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs387906534(-;C)

Make rs387906534(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

88856343

Gene

ACAN

is a	snp
is	mentioned by
dbSNP	rs387906534
dbSNP (classic)	rs387906534
ClinGen	rs387906534
ebi	rs387906534
HLI	rs387906534
Exac	rs387906534
Gnomad	rs387906534
Varsome	rs387906534
LitVar	rs387906534
Map	rs387906534
PheGenI	rs387906534
Biobank	rs387906534
1000 genomes	rs387906534
hgdp	rs387906534
ensembl	rs387906534
geneview	rs387906534
scholar	rs387906534
google	rs387906534
pharmgkb	rs387906534
gwascentral	rs387906534
openSNP	rs387906534
23andMe	rs387906534
SNPshot	rs387906534
SNPdbe	rs387906534
MSV3d	rs387906534
GWAS Ctlg	rs387906534

Max Magnitude

0

ClinVar
Risk	rs387906534(C;C)
Alt	rs387906534(C;C)
Reference	Rs387906534(-;-)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia
Variation	info
Gene	ACAN
CLNDBN	Spondyloepiphyseal dysplasia, kimberley type
Reversed	0
HGVS	NC_000015.9:g.89399574dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000015374.25,