rs121912882

Orientation

minus

Stabilized

minus

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

Make rs121912882(C;T)

Make rs121912882(T;T)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47979534

Gene	COL2A1, LOC105369752

is a	snp
is	mentioned by
dbSNP	rs121912882
dbSNP (classic)	rs121912882
ClinGen	rs121912882
ebi	rs121912882
HLI	rs121912882
Exac	rs121912882
Gnomad	rs121912882
Varsome	rs121912882
LitVar	rs121912882
Map	rs121912882
PheGenI	rs121912882
Biobank	rs121912882
1000 genomes	rs121912882
hgdp	rs121912882
ensembl	rs121912882
geneview	rs121912882
scholar	rs121912882
google	rs121912882
pharmgkb	rs121912882
gwascentral	rs121912882
openSNP	rs121912882
23andMe	rs121912882
SNPshot	rs121912882
SNPdbe	rs121912882
MSV3d	rs121912882
GWAS Ctlg	rs121912882

Max Magnitude

0

OMIM	120140
Desc
Variant	0029
Related	also

ClinVar
Risk	rs121912882(T;T)
Alt	rs121912882(T;T)
Reference	Rs121912882(C;C)
Significance	Pathogenic
Disease	Epiphyseal dysplasia Myopia
Variation	info
Gene	COL2A1
CLNDBN	Epiphyseal dysplasia, multiple, with myopia and conductive deafness Myopia
Reversed	1
HGVS	NC_000012.11:g.48373317G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018922.28, RCV000414959.1,