rs121912888

Orientation

minus

Stabilized

minus

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

Make rs121912888(A;A)

Make rs121912888(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47985946

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912888
dbSNP (classic)	rs121912888
ClinGen	rs121912888
ebi	rs121912888
HLI	rs121912888
Exac	rs121912888
Gnomad	rs121912888
Varsome	rs121912888
LitVar	rs121912888
Map	rs121912888
PheGenI	rs121912888
Biobank	rs121912888
1000 genomes	rs121912888
hgdp	rs121912888
ensembl	rs121912888
geneview	rs121912888
scholar	rs121912888
google	rs121912888
pharmgkb	rs121912888
gwascentral	rs121912888
openSNP	rs121912888
23andMe	rs121912888
SNPshot	rs121912888
SNPdbe	rs121912888
MSV3d	rs121912888
GWAS Ctlg	rs121912888

Max Magnitude

0

OMIM	120140
Desc
Variant	0038
Related	also

ClinVar
Risk	rs121912888(A;A)
Alt	rs121912888(A;A)
Reference	Rs121912888(G;G)
Significance	Pathogenic
Disease	Achondrogenesis
Variation	info
Gene	COL2A1
CLNDBN	Achondrogenesis, type II
Reversed	1
HGVS	NC_000012.11:g.48379729C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022481.28,