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rs121909210

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909210(C;T)
Make rs121909210(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position136046406
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909210
dbSNP (classic)rs121909210
ClinGenrs121909210
ebirs121909210
HLIrs121909210
Exacrs121909210
Gnomadrs121909210
Varsomers121909210
LitVarrs121909210
Maprs121909210
PheGenIrs121909210
Biobankrs121909210
1000 genomesrs121909210
hgdprs121909210
ensemblrs121909210
geneviewrs121909210
scholarrs121909210
googlers121909210
pharmgkbrs121909210
gwascentralrs121909210
openSNPrs121909210
23andMers121909210
SNPshotrs121909210
SNPdbers121909210
MSV3drs121909210
GWAS Ctlgrs121909210
Max Magnitude0
OMIM601692
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909210(A;A) rs121909210(T;T)
Alt rs121909210(A;A) rs121909210(T;T)
Reference Rs121909210(C;C)
Significance Pathogenic
Disease Groenouw corneal dystrophy type I Lattice corneal dystrophy Type I
Variation info
Gene TGFBI
CLNDBN Groenouw corneal dystrophy type I Lattice corneal dystrophy Type I
Reversed 0
HGVS NC_000005.9:g.135382095C>A; NC_000005.9:g.135382095C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008322.2, RCV000008317.3,