rs121912874

Orientation

minus

Stabilized

minus

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

Make rs121912874(C;T)

Make rs121912874(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47978329

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912874
dbSNP (classic)	rs121912874
ClinGen	rs121912874
ebi	rs121912874
HLI	rs121912874
Exac	rs121912874
Gnomad	rs121912874
Varsome	rs121912874
LitVar	rs121912874
Map	rs121912874
PheGenI	rs121912874
Biobank	rs121912874
1000 genomes	rs121912874
hgdp	rs121912874
ensembl	rs121912874
geneview	rs121912874
scholar	rs121912874
google	rs121912874
pharmgkb	rs121912874
gwascentral	rs121912874
openSNP	rs121912874
23andMe	rs121912874
SNPshot	rs121912874
SNPdbe	rs121912874
MSV3d	rs121912874
GWAS Ctlg	rs121912874

Max Magnitude

0

OMIM	120140
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912874(T;T)
Alt	rs121912874(T;T)
Reference	Rs121912874(C;C)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia congenita not provided
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepiphyseal dysplasia congenita not provided
Reversed	1
HGVS	NC_000012.11:g.48372112G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018910.28, RCV000478360.1,