rs121912876

Orientation

minus

Stabilized

minus

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

Make rs121912876(C;T)

Make rs121912876(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47994041

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912876
dbSNP (classic)	rs121912876
ClinGen	rs121912876
ebi	rs121912876
HLI	rs121912876
Exac	rs121912876
Gnomad	rs121912876
Varsome	rs121912876
LitVar	rs121912876
Map	rs121912876
PheGenI	rs121912876
Biobank	rs121912876
1000 genomes	rs121912876
hgdp	rs121912876
ensembl	rs121912876
geneview	rs121912876
scholar	rs121912876
google	rs121912876
pharmgkb	rs121912876
gwascentral	rs121912876
openSNP	rs121912876
23andMe	rs121912876
SNPshot	rs121912876
SNPdbe	rs121912876
MSV3d	rs121912876
GWAS Ctlg	rs121912876

Max Magnitude

0

OMIM	120140
Desc
Variant	0018
Related	also

ClinVar
Risk	rs121912876(T;T)
Alt	rs121912876(T;T)
Reference	Rs121912876(C;C)
Significance	Pathogenic
Disease	Czech dysplasia metatarsal type
Variation	info
Gene	COL2A1
CLNDBN	Czech dysplasia metatarsal type
Reversed	1
HGVS	NC_000012.11:g.48387824G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018912.27,