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rs121912893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121912893(C;T)
Make rs121912893(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position47983721
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912893
ebirs121912893
HLIrs121912893
Exacrs121912893
Varsomers121912893
Maprs121912893
PheGenIrs121912893
hapmaprs121912893
1000 genomesrs121912893
hgdprs121912893
ensemblrs121912893
gopubmedrs121912893
geneviewrs121912893
scholarrs121912893
googlers121912893
pharmgkbrs121912893
gwascentralrs121912893
openSNPrs121912893
23andMers121912893
23andMe allrs121912893
SNP Nexus

SNPshotrs121912893
SNPdbers121912893
MSV3drs121912893
GWAS Ctlgrs121912893
Max Magnitude0
OMIM120140
Desc
Variant0045
Relatedalso
ClinVar
Risk rs121912893(T;T)
Alt rs121912893(T;T)
Reference rs121912893(C;C)
Significance Pathogenic
Disease Stickler syndrome type 1 Rhegmatogenous retinal detachment
Variation info
Gene COL2A1
CLNDBN Stickler syndrome type 1 Rhegmatogenous retinal detachment, autosomal dominant
Reversed 1
HGVS NC_000012.11:g.48377504G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018938.27, RCV000018939.27,