rs121912870

Orientation

minus

Stabilized

minus

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

Make rs121912870(A;A)

Make rs121912870(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47975971

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912870
dbSNP (classic)	rs121912870
ClinGen	rs121912870
ebi	rs121912870
HLI	rs121912870
Exac	rs121912870
Gnomad	rs121912870
Varsome	rs121912870
LitVar	rs121912870
Map	rs121912870
PheGenI	rs121912870
Biobank	rs121912870
1000 genomes	rs121912870
hgdp	rs121912870
ensembl	rs121912870
geneview	rs121912870
scholar	rs121912870
google	rs121912870
pharmgkb	rs121912870
gwascentral	rs121912870
openSNP	rs121912870
23andMe	rs121912870
SNPshot	rs121912870
SNPdbe	rs121912870
MSV3d	rs121912870
GWAS Ctlg	rs121912870

Max Magnitude

0

OMIM	120140
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121912870(A;A)
Alt	rs121912870(A;A)
Reference	Rs121912870(G;G)
Significance	Other
Disease	Spondyloepiphyseal dysplasia congenita not provided
Variation	info
Gene	COL2A1
CLNDBN	Spondyloepiphyseal dysplasia congenita not provided
Reversed	1
HGVS	NC_000012.11:g.48369754C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018905.24, RCV000484896.1,