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rs121912894

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912894(A;A)
Make rs121912894(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47993475
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912894
ebirs121912894
HLIrs121912894
Exacrs121912894
Varsomers121912894
Maprs121912894
PheGenIrs121912894
hapmaprs121912894
1000 genomesrs121912894
hgdprs121912894
ensemblrs121912894
gopubmedrs121912894
geneviewrs121912894
scholarrs121912894
googlers121912894
pharmgkbrs121912894
gwascentralrs121912894
openSNPrs121912894
23andMers121912894
23andMe allrs121912894
SNP Nexus

SNPshotrs121912894
SNPdbers121912894
MSV3drs121912894
GWAS Ctlgrs121912894
Max Magnitude0
OMIM120140
Desc
Variant0046
Relatedalso
ClinVar
Risk rs121912894(A;A)
Alt rs121912894(A;A)
Reference rs121912894(G;G)
Significance Pathogenic
Disease Rhegmatogenous retinal detachment
Variation info
Gene COL2A1
CLNDBN Rhegmatogenous retinal detachment, autosomal dominant
Reversed 1
HGVS NC_000012.11:g.48387258C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018940.27,