rs312262899

Orientation

minus

Stabilized

minus

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

Make rs312262899(A;A)

Make rs312262899(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18785063

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs312262899
dbSNP (classic)	rs312262899
ClinGen	rs312262899
ebi	rs312262899
HLI	rs312262899
Exac	rs312262899
Gnomad	rs312262899
Varsome	rs312262899
LitVar	rs312262899
Map	rs312262899
PheGenI	rs312262899
Biobank	rs312262899
1000 genomes	rs312262899
hgdp	rs312262899
ensembl	rs312262899
geneview	rs312262899
scholar	rs312262899
google	rs312262899
pharmgkb	rs312262899
gwascentral	rs312262899
openSNP	rs312262899
23andMe	rs312262899
SNPshot	rs312262899
SNPdbe	rs312262899
MSV3d	rs312262899
GWAS Ctlg	rs312262899

Max Magnitude

0

ClinVar
Risk	rs312262899(A;A) rs312262899(C;C)
Alt	rs312262899(A;A) rs312262899(C;C)
Reference	Rs312262899(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.18895873C>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000033884.2,