rs121912864

Orientation

minus

Stabilized

minus

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

Make rs121912864(A;A)

Make rs121912864(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47977373

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912864
dbSNP (classic)	rs121912864
ClinGen	rs121912864
ebi	rs121912864
HLI	rs121912864
Exac	rs121912864
Gnomad	rs121912864
Varsome	rs121912864
LitVar	rs121912864
Map	rs121912864
PheGenI	rs121912864
Biobank	rs121912864
1000 genomes	rs121912864
hgdp	rs121912864
ensembl	rs121912864
geneview	rs121912864
scholar	rs121912864
google	rs121912864
pharmgkb	rs121912864
gwascentral	rs121912864
openSNP	rs121912864
23andMe	rs121912864
SNPshot	rs121912864
SNPdbe	rs121912864
MSV3d	rs121912864
GWAS Ctlg	rs121912864

Max Magnitude

0

OMIM	120140
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912864(A;A)
Alt	rs121912864(A;A)
Reference	Rs121912864(G;G)
Significance	Pathogenic
Disease	Hypochondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Hypochondrogenesis
Reversed	1
HGVS	NC_000012.11:g.48371156C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000018895.27,