rs397515511

Orientation

minus

Stabilized

minus

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

Make rs397515511(A;A)

Make rs397515511(A;C)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18785676

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs397515511
dbSNP (classic)	rs397515511
ClinGen	rs397515511
ebi	rs397515511
HLI	rs397515511
Exac	rs397515511
Gnomad	rs397515511
Varsome	rs397515511
LitVar	rs397515511
Map	rs397515511
PheGenI	rs397515511
Biobank	rs397515511
1000 genomes	rs397515511
hgdp	rs397515511
ensembl	rs397515511
geneview	rs397515511
scholar	rs397515511
google	rs397515511
pharmgkb	rs397515511
gwascentral	rs397515511
openSNP	rs397515511
23andMe	rs397515511
SNPshot	rs397515511
SNPdbe	rs397515511
MSV3d	rs397515511
GWAS Ctlg	rs397515511

Max Magnitude

0

ClinVar
Risk	rs397515511(A;A)
Alt	rs397515511(A;A)
Reference	Rs397515511(C;C)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Multiple epiphyseal dysplasia 1
Reversed	1
HGVS	NC_000019.9:g.18896486G>T
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000055750.1,