rs121912865

Orientation

minus

Stabilized

minus

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

Make rs121912865(C;T)

Make rs121912865(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47982886

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912865
dbSNP (classic)	rs121912865
ClinGen	rs121912865
ebi	rs121912865
HLI	rs121912865
Exac	rs121912865
Gnomad	rs121912865
Varsome	rs121912865
LitVar	rs121912865
Map	rs121912865
PheGenI	rs121912865
Biobank	rs121912865
1000 genomes	rs121912865
hgdp	rs121912865
ensembl	rs121912865
geneview	rs121912865
scholar	rs121912865
google	rs121912865
pharmgkb	rs121912865
gwascentral	rs121912865
openSNP	rs121912865
23andMe	rs121912865
SNPshot	rs121912865
SNPdbe	rs121912865
MSV3d	rs121912865
GWAS Ctlg	rs121912865

Max Magnitude

0

OMIM	120140
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121912865(T;T)
Alt	rs121912865(T;T)
Reference	Rs121912865(C;C)
Significance	Pathogenic
Disease	Osteoarthritis with mild chondrodysplasia
Variation	info
Gene	COL2A1
CLNDBN	Osteoarthritis with mild chondrodysplasia
Reversed	1
HGVS	NC_000012.11:g.48376669G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018896.29,