rs312262900

Orientation

minus

Stabilized

minus

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

Make rs312262900(C;T)

Make rs312262900(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18785056

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs312262900
dbSNP (classic)	rs312262900
ClinGen	rs312262900
ebi	rs312262900
HLI	rs312262900
Exac	rs312262900
Gnomad	rs312262900
Varsome	rs312262900
LitVar	rs312262900
Map	rs312262900
PheGenI	rs312262900
Biobank	rs312262900
1000 genomes	rs312262900
hgdp	rs312262900
ensembl	rs312262900
geneview	rs312262900
scholar	rs312262900
google	rs312262900
pharmgkb	rs312262900
gwascentral	rs312262900
openSNP	rs312262900
23andMe	rs312262900
SNPshot	rs312262900
SNPdbe	rs312262900
MSV3d	rs312262900
GWAS Ctlg	rs312262900

Max Magnitude

0

ClinVar
Risk	rs312262900(A;A) rs312262900(G;G) rs312262900(T;T)
Alt	rs312262900(A;A) rs312262900(G;G) rs312262900(T;T)
Reference	Rs312262900(C;C)
Significance	Pathogenic
Disease	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome Multiple epiphyseal dysplasia 1
Reversed	1
HGVS	NC_000019.9:g.18895866G>A; NC_000019.9:g.18895866G>C; NC_000019.9:g.18895866G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033887.2, RCV000055752.1, RCV000033886.2, RCV000055751.1, RCV000033885.2,