rs121912899

Orientation

minus

Stabilized

minus

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

Make rs121912899(G;T)

Make rs121912899(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47985771

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912899
dbSNP (classic)	rs121912899
ClinGen	rs121912899
ebi	rs121912899
HLI	rs121912899
Exac	rs121912899
Gnomad	rs121912899
Varsome	rs121912899
LitVar	rs121912899
Map	rs121912899
PheGenI	rs121912899
Biobank	rs121912899
1000 genomes	rs121912899
hgdp	rs121912899
ensembl	rs121912899
geneview	rs121912899
scholar	rs121912899
google	rs121912899
pharmgkb	rs121912899
gwascentral	rs121912899
openSNP	rs121912899
23andMe	rs121912899
SNPshot	rs121912899
SNPdbe	rs121912899
MSV3d	rs121912899
GWAS Ctlg	rs121912899

Max Magnitude

0

OMIM	120140
Desc
Variant	0053
Related	also

ClinVar
Risk	rs121912899(T;T)
Alt	rs121912899(T;T)
Reference	Rs121912899(G;G)
Significance	Pathogenic
Disease	Achondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Achondrogenesis, type II
Reversed	1
HGVS	NC_000012.11:g.48379554C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000022483.27,