rs121912868

Orientation

minus

Stabilized

minus

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

Make rs121912868(A;A)

Make rs121912868(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47977607

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912868
dbSNP (classic)	rs121912868
ClinGen	rs121912868
ebi	rs121912868
HLI	rs121912868
Exac	rs121912868
Gnomad	rs121912868
Varsome	rs121912868
LitVar	rs121912868
Map	rs121912868
PheGenI	rs121912868
Biobank	rs121912868
1000 genomes	rs121912868
hgdp	rs121912868
ensembl	rs121912868
geneview	rs121912868
scholar	rs121912868
google	rs121912868
pharmgkb	rs121912868
gwascentral	rs121912868
openSNP	rs121912868
23andMe	rs121912868
SNPshot	rs121912868
SNPdbe	rs121912868
MSV3d	rs121912868
GWAS Ctlg	rs121912868

Max Magnitude

0

OMIM	120140
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912868(A;A)
Alt	rs121912868(A;A)
Reference	Rs121912868(G;G)
Significance	Pathogenic
Disease	Hypochondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Hypochondrogenesis
Reversed	1
HGVS	NC_000012.11:g.48371390C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018903.23,