rs312262904

Orientation

minus

Stabilized

minus

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

Make rs312262904(A;A)

Make rs312262904(A;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18783126

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs312262904
dbSNP (classic)	rs312262904
ClinGen	rs312262904
ebi	rs312262904
HLI	rs312262904
Exac	rs312262904
Gnomad	rs312262904
Varsome	rs312262904
LitVar	rs312262904
Map	rs312262904
PheGenI	rs312262904
Biobank	rs312262904
1000 genomes	rs312262904
hgdp	rs312262904
ensembl	rs312262904
geneview	rs312262904
scholar	rs312262904
google	rs312262904
pharmgkb	rs312262904
gwascentral	rs312262904
openSNP	rs312262904
23andMe	rs312262904
SNPshot	rs312262904
SNPdbe	rs312262904
MSV3d	rs312262904
GWAS Ctlg	rs312262904

Max Magnitude

0

ClinVar
Risk	rs312262904(A;A)
Alt	rs312262904(A;A)
Reference	Rs312262904(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.18893936C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000033889.2,