rs137852656

Orientation

minus

Stabilized

minus

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

Make rs137852656(C;C)

Make rs137852656(C;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18787584

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs137852656
dbSNP (classic)	rs137852656
ClinGen	rs137852656
ebi	rs137852656
HLI	rs137852656
Exac	rs137852656
Gnomad	rs137852656
Varsome	rs137852656
LitVar	rs137852656
Map	rs137852656
PheGenI	rs137852656
Biobank	rs137852656
1000 genomes	rs137852656
hgdp	rs137852656
ensembl	rs137852656
geneview	rs137852656
scholar	rs137852656
google	rs137852656
pharmgkb	rs137852656
gwascentral	rs137852656
openSNP	rs137852656
23andMe	rs137852656
SNPshot	rs137852656
SNPdbe	rs137852656
MSV3d	rs137852656
GWAS Ctlg	rs137852656

Max Magnitude

0

OMIM	600310
Desc
Variant	0014
Related	also

ClinVar
Risk	rs137852656(C;C)
Alt	rs137852656(C;C)
Reference	Rs137852656(T;T)
Significance	Pathogenic
Disease	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed	1
HGVS	NC_000019.9:g.18898393A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009773.2,