rs121912886

Orientation

minus

Stabilized

minus

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

Make rs121912886(C;T)

Make rs121912886(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47974090

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912886
dbSNP (classic)	rs121912886
ClinGen	rs121912886
ebi	rs121912886
HLI	rs121912886
Exac	rs121912886
Gnomad	rs121912886
Varsome	rs121912886
LitVar	rs121912886
Map	rs121912886
PheGenI	rs121912886
Biobank	rs121912886
1000 genomes	rs121912886
hgdp	rs121912886
ensembl	rs121912886
geneview	rs121912886
scholar	rs121912886
google	rs121912886
pharmgkb	rs121912886
gwascentral	rs121912886
openSNP	rs121912886
23andMe	rs121912886
SNPshot	rs121912886
SNPdbe	rs121912886
MSV3d	rs121912886
GWAS Ctlg	rs121912886

Max Magnitude

0

OMIM	120140
Desc
Variant	0035
Related	also

ClinVar
Risk	rs121912886(A;A) rs121912886(T;T)
Alt	rs121912886(A;A) rs121912886(T;T)
Reference	Rs121912886(C;C)
Significance	Pathogenic
Disease	Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepiphyseal dysplasia congenita Spondyloperipheral dysplasia
Reversed	1
HGVS	NC_000012.11:g.48367873G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018928.23, RCV000190574.1,