rs121912878

Orientation

minus

Stabilized

minus

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

Make rs121912878(A;A)

Make rs121912878(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47978389

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912878
dbSNP (classic)	rs121912878
ClinGen	rs121912878
ebi	rs121912878
HLI	rs121912878
Exac	rs121912878
Gnomad	rs121912878
Varsome	rs121912878
LitVar	rs121912878
Map	rs121912878
PheGenI	rs121912878
Biobank	rs121912878
1000 genomes	rs121912878
hgdp	rs121912878
ensembl	rs121912878
geneview	rs121912878
scholar	rs121912878
google	rs121912878
pharmgkb	rs121912878
gwascentral	rs121912878
openSNP	rs121912878
23andMe	rs121912878
SNPshot	rs121912878
SNPdbe	rs121912878
MSV3d	rs121912878
GWAS Ctlg	rs121912878

Max Magnitude

0

OMIM	120140
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121912878(A;A)
Alt	rs121912878(A;A)
Reference	Rs121912878(G;G)
Significance	Pathogenic
Disease	Achondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Achondrogenesis, type II
Reversed	1
HGVS	NC_000012.11:g.48372172C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018915.23,