rs121912892

Orientation

minus

Stabilized

minus

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

Make rs121912892(A;A)

Make rs121912892(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47981829

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912892
dbSNP (classic)	rs121912892
ClinGen	rs121912892
ebi	rs121912892
HLI	rs121912892
Exac	rs121912892
Gnomad	rs121912892
Varsome	rs121912892
LitVar	rs121912892
Map	rs121912892
PheGenI	rs121912892
Biobank	rs121912892
1000 genomes	rs121912892
hgdp	rs121912892
ensembl	rs121912892
geneview	rs121912892
scholar	rs121912892
google	rs121912892
pharmgkb	rs121912892
gwascentral	rs121912892
openSNP	rs121912892
23andMe	rs121912892
SNPshot	rs121912892
SNPdbe	rs121912892
MSV3d	rs121912892
GWAS Ctlg	rs121912892

Max Magnitude

0

OMIM	120140
Desc
Variant	0044
Related	also

ClinVar
Risk	rs121912892(A;A)
Alt	rs121912892(A;A)
Reference	Rs121912892(G;G)
Significance	Pathogenic
Disease	Avascular necrosis of the femoral head
Variation	info
Gene	COL2A1
CLNDBN	Avascular necrosis of the femoral head, primary
Reversed	1
HGVS	NC_000012.11:g.48375612C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018937.26,