rs121912950

Orientation

minus

Stabilized

minus

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

Make rs121912950(C;T)

Make rs121912950(T;T)

Reference

GRCh38 38.1/141

Chromosome

6

Position

33167305

Gene

COL11A2

is a	snp
is	mentioned by
dbSNP	rs121912950
dbSNP (classic)	rs121912950
ClinGen	rs121912950
ebi	rs121912950
HLI	rs121912950
Exac	rs121912950
Gnomad	rs121912950
Varsome	rs121912950
LitVar	rs121912950
Map	rs121912950
PheGenI	rs121912950
Biobank	rs121912950
1000 genomes	rs121912950
hgdp	rs121912950
ensembl	rs121912950
geneview	rs121912950
scholar	rs121912950
google	rs121912950
pharmgkb	rs121912950
gwascentral	rs121912950
openSNP	rs121912950
23andMe	rs121912950
SNPshot	rs121912950
SNPdbe	rs121912950
MSV3d	rs121912950
GWAS Ctlg	rs121912950

Max Magnitude

0

OMIM	120290
Desc
Variant	0008
Related	also

ClinVar
Risk	rs121912950(T;T)
Alt	rs121912950(T;T)
Reference	Rs121912950(C;C)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL11A2
CLNDBN	Stickler syndrome, type 3
Reversed	1
HGVS	NC_000006.11:g.33135082G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018665.29,