rs121912949

Orientation

minus

Stabilized

minus

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

Make rs121912949(A;A)

Make rs121912949(A;C)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33174048

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912949
dbSNP (classic)	rs121912949
ClinGen	rs121912949
ebi	rs121912949
HLI	rs121912949
Exac	rs121912949
Gnomad	rs121912949
Varsome	rs121912949
LitVar	rs121912949
Map	rs121912949
PheGenI	rs121912949
Biobank	rs121912949
1000 genomes	rs121912949
hgdp	rs121912949
ensembl	rs121912949
geneview	rs121912949
scholar	rs121912949
google	rs121912949
pharmgkb	rs121912949
gwascentral	rs121912949
openSNP	rs121912949
23andMe	rs121912949
SNPshot	rs121912949
SNPdbe	rs121912949
MSV3d	rs121912949
GWAS Ctlg	rs121912949

Max Magnitude

0

OMIM	120290
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912949(A;A) rs121912949(T;T)
Alt	rs121912949(A;A) rs121912949(T;T)
Reference	Rs121912949(C;C)
Significance	Pathogenic
Disease	Otospondylomegaepiphyseal dysplasia
Variation	info
Gene	COL11A2
CLNDBN	Otospondylomegaepiphyseal dysplasia
Reversed	1
HGVS	NC_000006.11:g.33141825G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018664.28,