rs751557

Orientation

minus

Stabilized

minus

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

Make rs751557(G;T)

Make rs751557(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

62832170

Gene

COL9A3

is a	snp
is	mentioned by
dbSNP	rs751557
dbSNP (classic)	rs751557
ClinGen	rs751557
ebi	rs751557
HLI	rs751557
Exac	rs751557
Gnomad	rs751557
Varsome	rs751557
LitVar	rs751557
Map	rs751557
PheGenI	rs751557
Biobank	rs751557
1000 genomes	rs751557
hgdp	rs751557
ensembl	rs751557
geneview	rs751557
scholar	rs751557
google	rs751557
pharmgkb	rs751557
gwascentral	rs751557
openSNP	rs751557
23andMe	rs751557
SNPshot	rs751557
SNPdbe	rs751557
MSV3d	rs751557
GWAS Ctlg	rs751557

GMAF

0.2121

Max Magnitude

0

?	(G;G) (G;T) (T;T)	28

ClinVar
Risk	rs751557(T;T)
Alt	rs751557(T;T)
Reference	Rs751557(G;G)
Significance	Non-pathogenic
Disease	not specified Multiple Epiphyseal Dysplasia
Variation	info
Gene	COL9A3
CLNDBN	not specified Multiple Epiphyseal Dysplasia, Dominant
Reversed	1
HGVS	NC_000020.10:g.61463522C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000176546.2, RCV000304474.1,