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rs121912887

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121912887(A;A)
Make rs121912887(A;G)
ReferenceGRCh38 38.1/141
Chromosome12
Position47974835
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs121912887
ebirs121912887
HLIrs121912887
Exacrs121912887
Varsomers121912887
Maprs121912887
PheGenIrs121912887
hapmaprs121912887
1000 genomesrs121912887
hgdprs121912887
ensemblrs121912887
gopubmedrs121912887
geneviewrs121912887
scholarrs121912887
googlers121912887
pharmgkbrs121912887
gwascentralrs121912887
openSNPrs121912887
23andMers121912887
23andMe allrs121912887
SNP Nexus

SNPshotrs121912887
SNPdbers121912887
MSV3drs121912887
GWAS Ctlgrs121912887
Max Magnitude0
OMIM120140
Desc
Variant0037
Relatedalso
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
CLNACC RCV000018930.23,