rs121912887

Orientation

minus

Stabilized

minus

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

Make rs121912887(A;A)

Make rs121912887(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

47974835

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912887
dbSNP (classic)	rs121912887
ClinGen	rs121912887
ebi	rs121912887
HLI	rs121912887
Exac	rs121912887
Gnomad	rs121912887
Varsome	rs121912887
LitVar	rs121912887
Map	rs121912887
PheGenI	rs121912887
Biobank	rs121912887
1000 genomes	rs121912887
hgdp	rs121912887
ensembl	rs121912887
geneview	rs121912887
scholar	rs121912887
google	rs121912887
pharmgkb	rs121912887
gwascentral	rs121912887
openSNP	rs121912887
23andMe	rs121912887
SNPshot	rs121912887
SNPdbe	rs121912887
MSV3d	rs121912887
GWAS Ctlg	rs121912887

Max Magnitude

0

OMIM	120140
Desc
Variant	0037
Related	also

ClinVar
Risk	rs121912887(A;A)
Alt	rs121912887(A;A)
Reference	Rs121912887(G;G)
Significance	Pathogenic
Disease	Vitreoretinopathy with phalangeal epiphyseal dysplasia
Variation	info
Gene	COL2A1
CLNDBN	Vitreoretinopathy with phalangeal epiphyseal dysplasia
Reversed	1
HGVS	NC_000012.11:g.48368618C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018930.24,