rs121912867

Orientation

minus

Stabilized

minus

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

Make rs121912867(A;A)

Make rs121912867(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47982142

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912867
dbSNP (classic)	rs121912867
ClinGen	rs121912867
ebi	rs121912867
HLI	rs121912867
Exac	rs121912867
Gnomad	rs121912867
Varsome	rs121912867
LitVar	rs121912867
Map	rs121912867
PheGenI	rs121912867
Biobank	rs121912867
1000 genomes	rs121912867
hgdp	rs121912867
ensembl	rs121912867
geneview	rs121912867
scholar	rs121912867
google	rs121912867
pharmgkb	rs121912867
gwascentral	rs121912867
openSNP	rs121912867
23andMe	rs121912867
SNPshot	rs121912867
SNPdbe	rs121912867
MSV3d	rs121912867
GWAS Ctlg	rs121912867

Max Magnitude

0

OMIM	120140
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121912867(A;A)
Alt	rs121912867(A;A)
Reference	Rs121912867(G;G)
Significance	Pathogenic
Disease	Hypochondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Hypochondrogenesis
Reversed	1
HGVS	NC_000012.11:g.48375925C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018901.28,