rs121912898

Orientation

minus

Stabilized

minus

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

Make rs121912898(A;A)

Make rs121912898(A;G)

Reference

GRCh38 38.1/141

Chromosome

12

Position

48000041

Gene

COL2A1

is a	snp
is	mentioned by
dbSNP	rs121912898
dbSNP (classic)	rs121912898
ClinGen	rs121912898
ebi	rs121912898
HLI	rs121912898
Exac	rs121912898
Gnomad	rs121912898
Varsome	rs121912898
LitVar	rs121912898
Map	rs121912898
PheGenI	rs121912898
Biobank	rs121912898
1000 genomes	rs121912898
hgdp	rs121912898
ensembl	rs121912898
geneview	rs121912898
scholar	rs121912898
google	rs121912898
pharmgkb	rs121912898
gwascentral	rs121912898
openSNP	rs121912898
23andMe	rs121912898
SNPshot	rs121912898
SNPdbe	rs121912898
MSV3d	rs121912898
GWAS Ctlg	rs121912898

Max Magnitude

0

OMIM	120140
Desc
Variant	0052
Related	also

ClinVar
Risk	rs121912898(A;A)
Alt	rs121912898(A;A)
Reference	Rs121912898(G;G)
Significance	Pathogenic
Disease	Stickler syndrome
Variation	info
Gene	COL2A1
CLNDBN	Stickler syndrome, type I, nonsyndromic ocular
Reversed	1
HGVS	NC_000012.11:g.48393824C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018946.28,