rs121912879

Orientation

minus

Stabilized

minus

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

Make rs121912879(C;C)

Make rs121912879(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47980017

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912879
dbSNP (classic)	rs121912879
ClinGen	rs121912879
ebi	rs121912879
HLI	rs121912879
Exac	rs121912879
Gnomad	rs121912879
Varsome	rs121912879
LitVar	rs121912879
Map	rs121912879
PheGenI	rs121912879
Biobank	rs121912879
1000 genomes	rs121912879
hgdp	rs121912879
ensembl	rs121912879
geneview	rs121912879
scholar	rs121912879
google	rs121912879
pharmgkb	rs121912879
gwascentral	rs121912879
openSNP	rs121912879
23andMe	rs121912879
SNPshot	rs121912879
SNPdbe	rs121912879
MSV3d	rs121912879
GWAS Ctlg	rs121912879

Max Magnitude

0

OMIM	120140
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121912879(C;C)
Alt	rs121912879(C;C)
Reference	Rs121912879(G;G)
Significance	Pathogenic
Disease	Achondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Achondrogenesis, type II
Reversed	1
HGVS	NC_000012.11:g.48373800C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022480.27,