rs137852654

Orientation

minus

Stabilized

minus

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

Make rs137852654(C;G)

Make rs137852654(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18785772

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs137852654
dbSNP (classic)	rs137852654
ClinGen	rs137852654
ebi	rs137852654
HLI	rs137852654
Exac	rs137852654
Gnomad	rs137852654
Varsome	rs137852654
LitVar	rs137852654
Map	rs137852654
PheGenI	rs137852654
Biobank	rs137852654
1000 genomes	rs137852654
hgdp	rs137852654
ensembl	rs137852654
geneview	rs137852654
scholar	rs137852654
google	rs137852654
pharmgkb	rs137852654
gwascentral	rs137852654
openSNP	rs137852654
23andMe	rs137852654
SNPshot	rs137852654
SNPdbe	rs137852654
MSV3d	rs137852654
GWAS Ctlg	rs137852654

Max Magnitude

0

OMIM	600310
Desc
Variant	0008
Related	also

ClinVar
Risk	rs137852654(G;G)
Alt	rs137852654(G;G)
Reference	Rs137852654(C;C)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Multiple epiphyseal dysplasia 1
Reversed	1
HGVS	NC_000019.9:g.18896582G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009767.4,