rs121912891

Orientation

minus

Stabilized

minus

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

Make rs121912891(A;A)

Make rs121912891(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47976052

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912891
dbSNP (classic)	rs121912891
ClinGen	rs121912891
ebi	rs121912891
HLI	rs121912891
Exac	rs121912891
Gnomad	rs121912891
Varsome	rs121912891
LitVar	rs121912891
Map	rs121912891
PheGenI	rs121912891
Biobank	rs121912891
1000 genomes	rs121912891
hgdp	rs121912891
ensembl	rs121912891
geneview	rs121912891
scholar	rs121912891
google	rs121912891
pharmgkb	rs121912891
gwascentral	rs121912891
openSNP	rs121912891
23andMe	rs121912891
SNPshot	rs121912891
SNPdbe	rs121912891
MSV3d	rs121912891
GWAS Ctlg	rs121912891

Max Magnitude

0

OMIM	120140
Desc
Variant	0043
Related	also

ClinVar
Risk	rs121912891(A;A)
Alt	rs121912891(A;A)
Reference	Rs121912891(G;G)
Significance	Pathogenic
Disease	Avascular necrosis of the head of femur Coxa plana
Variation	info
Gene	COL2A1
CLNDBN	Avascular necrosis of the head of femur Coxa plana
Reversed	1
HGVS	NC_000012.11:g.48369835C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018935.28, RCV000018936.28,