rs606231367

Orientation

plus

Stabilized

plus

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

Make rs606231367(A;A)

Make rs606231367(A;G)

Reference

GRCh38.p2 38.2/144

Chromosome

20

Position

62818517

Gene

COL9A3

is a	snp
is	mentioned by
dbSNP	rs606231367
dbSNP (classic)	rs606231367
ClinGen	rs606231367
ebi	rs606231367
HLI	rs606231367
Exac	rs606231367
Gnomad	rs606231367
Varsome	rs606231367
LitVar	rs606231367
Map	rs606231367
PheGenI	rs606231367
Biobank	rs606231367
1000 genomes	rs606231367
hgdp	rs606231367
ensembl	rs606231367
geneview	rs606231367
scholar	rs606231367
google	rs606231367
pharmgkb	rs606231367
gwascentral	rs606231367
openSNP	rs606231367
23andMe	rs606231367
SNPshot	rs606231367
SNPdbe	rs606231367
MSV3d	rs606231367
GWAS Ctlg	rs606231367

Max Magnitude

0

ClinVar
Risk	rs606231367(A;A)
Alt	rs606231367(A;A)
Reference	Rs606231367(G;G)
Significance	Pathogenic
Disease	Epiphyseal dysplasia
Variation	info
Gene	COL9A3
CLNDBN	Epiphyseal dysplasia, multiple, 3, with myopathy
Reversed	0
HGVS	NC_000020.10:g.61449869G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018679.28,