rs121912881

Orientation

minus

Stabilized

minus

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

Make rs121912881(G;T)

Make rs121912881(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47986388

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912881
dbSNP (classic)	rs121912881
ClinGen	rs121912881
ebi	rs121912881
HLI	rs121912881
Exac	rs121912881
Gnomad	rs121912881
Varsome	rs121912881
LitVar	rs121912881
Map	rs121912881
PheGenI	rs121912881
Biobank	rs121912881
1000 genomes	rs121912881
hgdp	rs121912881
ensembl	rs121912881
geneview	rs121912881
scholar	rs121912881
google	rs121912881
pharmgkb	rs121912881
gwascentral	rs121912881
openSNP	rs121912881
23andMe	rs121912881
SNPshot	rs121912881
SNPdbe	rs121912881
MSV3d	rs121912881
GWAS Ctlg	rs121912881

Max Magnitude

0

OMIM	120140
Desc
Variant	0028
Related	also

ClinVar
Risk	rs121912881(T;T)
Alt	rs121912881(T;T)
Reference	Rs121912881(G;G)
Significance	Pathogenic
Disease	Spondyloepimetaphyseal dysplasia Strudwick type
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepimetaphyseal dysplasia Strudwick type
Reversed	1
HGVS	NC_000012.11:g.48380171C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018921.28,