rs121912893

Orientation

minus

Stabilized

minus

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

Make rs121912893(C;T)

Make rs121912893(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47983721

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912893
dbSNP (classic)	rs121912893
ClinGen	rs121912893
ebi	rs121912893
HLI	rs121912893
Exac	rs121912893
Gnomad	rs121912893
Varsome	rs121912893
LitVar	rs121912893
Map	rs121912893
PheGenI	rs121912893
Biobank	rs121912893
1000 genomes	rs121912893
hgdp	rs121912893
ensembl	rs121912893
geneview	rs121912893
scholar	rs121912893
google	rs121912893
pharmgkb	rs121912893
gwascentral	rs121912893
openSNP	rs121912893
23andMe	rs121912893
SNPshot	rs121912893
SNPdbe	rs121912893
MSV3d	rs121912893
GWAS Ctlg	rs121912893

Max Magnitude

0

OMIM	120140
Desc
Variant	0045
Related	also

ClinVar
Risk	rs121912893(T;T)
Alt	rs121912893(T;T)
Reference	Rs121912893(C;C)
Significance	Pathogenic
Disease	Stickler syndrome type 1 Rhegmatogenous retinal detachment not provided
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome type 1 Rhegmatogenous retinal detachment, autosomal dominant not provided
Reversed	1
HGVS	NC_000012.11:g.48377504G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018938.29, RCV000018939.29, RCV000481275.1,