rs2228564

Orientation

minus

Stabilized

minus

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

Make rs2228564(A;G)

Make rs2228564(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40307477

Gene

COL9A2

is a	snp
is	mentioned by
dbSNP	rs2228564
dbSNP (classic)	rs2228564
ClinGen	rs2228564
ebi	rs2228564
HLI	rs2228564
Exac	rs2228564
Gnomad	rs2228564
Varsome	rs2228564
LitVar	rs2228564
Map	rs2228564
PheGenI	rs2228564
Biobank	rs2228564
1000 genomes	rs2228564
hgdp	rs2228564
ensembl	rs2228564
geneview	rs2228564
scholar	rs2228564
google	rs2228564
pharmgkb	rs2228564
gwascentral	rs2228564
openSNP	rs2228564
23andMe	rs2228564
SNPshot	rs2228564
SNPdbe	rs2228564
MSV3d	rs2228564
GWAS Ctlg	rs2228564

Merged from

Rs7533552

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs2228564(C;C) rs2228564(G;G) rs2228564(T;T)
Alt	rs2228564(C;C) rs2228564(G;G) rs2228564(T;T)
Reference	Rs2228564(A;A)
Significance	Non-pathogenic
Disease	not specified Multiple Epiphyseal Dysplasia Stickler Syndrome
Variation	info
Gene	COL9A2
CLNDBN	not specified Multiple Epiphyseal Dysplasia, Dominant Stickler Syndrome, Recessive
Reversed	1
HGVS	NC_000001.10:g.40773149T>C
CLNSRC
CLNACC	RCV000248635.2, RCV000297316.1, RCV000401202.1,