rs121912889

Orientation

minus

Stabilized

minus

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

Make rs121912889(A;G)

Make rs121912889(G;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47974234

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912889
dbSNP (classic)	rs121912889
ClinGen	rs121912889
ebi	rs121912889
HLI	rs121912889
Exac	rs121912889
Gnomad	rs121912889
Varsome	rs121912889
LitVar	rs121912889
Map	rs121912889
PheGenI	rs121912889
Biobank	rs121912889
1000 genomes	rs121912889
hgdp	rs121912889
ensembl	rs121912889
geneview	rs121912889
scholar	rs121912889
google	rs121912889
pharmgkb	rs121912889
gwascentral	rs121912889
openSNP	rs121912889
23andMe	rs121912889
SNPshot	rs121912889
SNPdbe	rs121912889
MSV3d	rs121912889
GWAS Ctlg	rs121912889

Max Magnitude

0

OMIM	120140
Desc
Variant	0039
Related	also

ClinVar
Risk	rs121912889(G;G)
Alt	rs121912889(G;G)
Reference	Rs121912889(A;A)
Significance	Pathogenic
Disease	Platyspondylic lethal skeletal dysplasia Torrance type Spondyloperipheral dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Platyspondylic lethal skeletal dysplasia Torrance type Spondyloperipheral dysplasia
Reversed	1
HGVS	NC_000012.11:g.48368017T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018931.28, RCV000022482.28,