rs121912883

Orientation

minus

Stabilized

minus

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

Make rs121912883(C;C)

Make rs121912883(C;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47976043

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912883
dbSNP (classic)	rs121912883
ClinGen	rs121912883
ebi	rs121912883
HLI	rs121912883
Exac	rs121912883
Gnomad	rs121912883
Varsome	rs121912883
LitVar	rs121912883
Map	rs121912883
PheGenI	rs121912883
Biobank	rs121912883
1000 genomes	rs121912883
hgdp	rs121912883
ensembl	rs121912883
geneview	rs121912883
scholar	rs121912883
google	rs121912883
pharmgkb	rs121912883
gwascentral	rs121912883
openSNP	rs121912883
23andMe	rs121912883
SNPshot	rs121912883
SNPdbe	rs121912883
MSV3d	rs121912883
GWAS Ctlg	rs121912883

Max Magnitude

0

OMIM	120140
Desc
Variant	0031
Related	also

ClinVar
Risk	rs121912883(C;C)
Alt	rs121912883(C;C)
Reference	Rs121912883(G;G)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia congenita
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepiphyseal dysplasia congenita
Reversed	1
HGVS	NC_000012.11:g.48369826C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018924.28,