rs121912945

Orientation

minus

Stabilized

minus

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

Make rs121912945(A;A)

Make rs121912945(A;G)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33177216

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912945
dbSNP (classic)	rs121912945
ClinGen	rs121912945
ebi	rs121912945
HLI	rs121912945
Exac	rs121912945
Gnomad	rs121912945
Varsome	rs121912945
LitVar	rs121912945
Map	rs121912945
PheGenI	rs121912945
Biobank	rs121912945
1000 genomes	rs121912945
hgdp	rs121912945
ensembl	rs121912945
geneview	rs121912945
scholar	rs121912945
google	rs121912945
pharmgkb	rs121912945
gwascentral	rs121912945
openSNP	rs121912945
23andMe	rs121912945
SNPshot	rs121912945
SNPdbe	rs121912945
MSV3d	rs121912945
GWAS Ctlg	rs121912945

Max Magnitude

0

OMIM	120290
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912945(A;A) rs121912945(C;C)
Alt	rs121912945(A;A) rs121912945(C;C)
Reference	Rs121912945(G;G)
Significance	Pathogenic
Disease	Otospondylomegaepiphyseal dysplasia
Variation	info
Gene	COL11A2
CLNDBN	Otospondylomegaepiphyseal dysplasia
Reversed	1
HGVS	NC_000006.11:g.33144993C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018658.27,