rs137852651

Orientation

minus

Stabilized

minus

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

Make rs137852651(A;A)

Make rs137852651(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18786051

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs137852651
dbSNP (classic)	rs137852651
ClinGen	rs137852651
ebi	rs137852651
HLI	rs137852651
Exac	rs137852651
Gnomad	rs137852651
Varsome	rs137852651
LitVar	rs137852651
Map	rs137852651
PheGenI	rs137852651
Biobank	rs137852651
1000 genomes	rs137852651
hgdp	rs137852651
ensembl	rs137852651
geneview	rs137852651
scholar	rs137852651
google	rs137852651
pharmgkb	rs137852651
gwascentral	rs137852651
openSNP	rs137852651
23andMe	rs137852651
SNPshot	rs137852651
SNPdbe	rs137852651
MSV3d	rs137852651
GWAS Ctlg	rs137852651

Max Magnitude

0

OMIM	600310
Desc
Variant	0002
Related	also

ClinVar
Risk	rs137852651(A;A)
Alt	rs137852651(A;A)
Reference	Rs137852651(G;G)
Significance	Pathogenic
Disease	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
Reversed	1
HGVS	NC_000019.9:g.18896861C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000009762.2,