rs149551600

Orientation

plus

Stabilized

plus

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

Make rs149551600(C;T)

Make rs149551600(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

18783128

Gene

COMP

is a	snp
is	mentioned by
dbSNP	rs149551600
dbSNP (classic)	rs149551600
ClinGen	rs149551600
ebi	rs149551600
HLI	rs149551600
Exac	rs149551600
Gnomad	rs149551600
Varsome	rs149551600
LitVar	rs149551600
Map	rs149551600
PheGenI	rs149551600
Biobank	rs149551600
1000 genomes	rs149551600
hgdp	rs149551600
ensembl	rs149551600
geneview	rs149551600
scholar	rs149551600
google	rs149551600
pharmgkb	rs149551600
gwascentral	rs149551600
openSNP	rs149551600
23andMe	rs149551600
SNPshot	rs149551600
SNPdbe	rs149551600
MSV3d	rs149551600
GWAS Ctlg	rs149551600

Max Magnitude

0

ClinVar
Risk	rs149551600(G;G) rs149551600(T;T)
Alt	rs149551600(G;G) rs149551600(T;T)
Reference	Rs149551600(C;C)
Significance	Pathogenic
Disease	Multiple epiphyseal dysplasia 1
Variation	info
Gene	COMP
CLNDBN	Multiple epiphyseal dysplasia 1
Reversed	0
HGVS	NC_000019.9:g.18893938C>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055755.1,