rs312262903

Orientation

minus

Stabilized

minus

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

Make rs312262903(C;T)

Make rs312262903(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18785755

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs312262903
dbSNP (classic)	rs312262903
ClinGen	rs312262903
ebi	rs312262903
HLI	rs312262903
Exac	rs312262903
Gnomad	rs312262903
Varsome	rs312262903
LitVar	rs312262903
Map	rs312262903
PheGenI	rs312262903
Biobank	rs312262903
1000 genomes	rs312262903
hgdp	rs312262903
ensembl	rs312262903
geneview	rs312262903
scholar	rs312262903
google	rs312262903
pharmgkb	rs312262903
gwascentral	rs312262903
openSNP	rs312262903
23andMe	rs312262903
SNPshot	rs312262903
SNPdbe	rs312262903
MSV3d	rs312262903
GWAS Ctlg	rs312262903

Max Magnitude

0

ClinVar
Risk	rs312262903(T;T)
Alt	rs312262903(T;T)
Reference	Rs312262903(C;C)
Significance	Pathogenic
Disease	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome not specified
Variation	info
Gene	COMP
CLNDBN	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome not specified
Reversed	1
HGVS	NC_000019.9:g.18896565G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033882.2, RCV000489545.1,