rs869320730

Orientation

minus

Stabilized

minus

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

Make rs869320730(-;C)

Make rs869320730(C;C)

Reference

GRCh38.p2 38.2/147

Chromosome

19

Position

18783057

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs869320730
dbSNP (classic)	rs869320730
ClinGen	rs869320730
ebi	rs869320730
HLI	rs869320730
Exac	rs869320730
Gnomad	rs869320730
Varsome	rs869320730
LitVar	rs869320730
Map	rs869320730
PheGenI	rs869320730
Biobank	rs869320730
1000 genomes	rs869320730
hgdp	rs869320730
ensembl	rs869320730
geneview	rs869320730
scholar	rs869320730
google	rs869320730
pharmgkb	rs869320730
gwascentral	rs869320730
openSNP	rs869320730
23andMe	rs869320730
SNPshot	rs869320730
SNPdbe	rs869320730
MSV3d	rs869320730
GWAS Ctlg	rs869320730

Max Magnitude

0

ClinVar
Risk	rs869320730(C;C)
Alt	rs869320730(C;C)
Reference	Rs869320730(-;-)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Multiple epiphyseal dysplasia 1
Reversed	1
HGVS	NC_000019.9:g.18893868dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000009775.4,