rs121912951

Orientation

minus

Stabilized

minus

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

Make rs121912951(C;T)

Make rs121912951(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33167822

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912951
dbSNP (classic)	rs121912951
ClinGen	rs121912951
ebi	rs121912951
HLI	rs121912951
Exac	rs121912951
Gnomad	rs121912951
Varsome	rs121912951
LitVar	rs121912951
Map	rs121912951
PheGenI	rs121912951
Biobank	rs121912951
1000 genomes	rs121912951
hgdp	rs121912951
ensembl	rs121912951
geneview	rs121912951
scholar	rs121912951
google	rs121912951
pharmgkb	rs121912951
gwascentral	rs121912951
openSNP	rs121912951
23andMe	rs121912951
SNPshot	rs121912951
SNPdbe	rs121912951
MSV3d	rs121912951
GWAS Ctlg	rs121912951

Max Magnitude

0

OMIM	120290
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912951(T;T)
Alt	rs121912951(T;T)
Reference	Rs121912951(C;C)
Significance	Pathogenic
Disease	Otospondylomegaepiphyseal dysplasia
Variation	info
Gene	COL11A2
CLNDBN	Otospondylomegaepiphyseal dysplasia
Reversed	1
HGVS	NC_000006.11:g.33135599G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018666.24,