rs2228567

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common on affy axiom data

Make rs2228567(C;G)

Make rs2228567(G;G)

Reference

GRCh38 38.1/142

Chromosome

1

Position

40307451

Gene

COL9A2

is a	snp
is	mentioned by
dbSNP	rs2228567
dbSNP (classic)	rs2228567
ClinGen	rs2228567
ebi	rs2228567
HLI	rs2228567
Exac	rs2228567
Gnomad	rs2228567
Varsome	rs2228567
LitVar	rs2228567
Map	rs2228567
PheGenI	rs2228567
Biobank	rs2228567
1000 genomes	rs2228567
hgdp	rs2228567
ensembl	rs2228567
geneview	rs2228567
scholar	rs2228567
google	rs2228567
pharmgkb	rs2228567
gwascentral	rs2228567
openSNP	rs2228567
23andMe	rs2228567
SNPshot	rs2228567
SNPdbe	rs2228567
MSV3d	rs2228567
GWAS Ctlg	rs2228567

Merged from

Rs12722877

GMAF

0.08494

Max Magnitude

0

ClinVar
Risk	rs2228567(G;G) rs2228567(T;T)
Alt	rs2228567(G;G) rs2228567(T;T)
Reference	Rs2228567(C;C)
Significance	Probable-non-pathogenic
Disease	not specified Stickler Syndrome Multiple Epiphyseal Dysplasia
Variation	info
Gene	COL9A2
CLNDBN	not specified Stickler Syndrome, Recessive Multiple Epiphyseal Dysplasia, Dominant
Reversed	1
HGVS	NC_000001.10:g.40773123G>C
CLNSRC
CLNACC	RCV000254333.2, RCV000296221.1, RCV000350869.1,