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rs121909212

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909212(A;A)
Make rs121909212(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position136055770
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909212
dbSNP (classic)rs121909212
ClinGenrs121909212
ebirs121909212
HLIrs121909212
Exacrs121909212
Gnomadrs121909212
Varsomers121909212
LitVarrs121909212
Maprs121909212
PheGenIrs121909212
Biobankrs121909212
1000 genomesrs121909212
hgdprs121909212
ensemblrs121909212
geneviewrs121909212
scholarrs121909212
googlers121909212
pharmgkbrs121909212
gwascentralrs121909212
openSNPrs121909212
23andMers121909212
SNPshotrs121909212
SNPdbers121909212
MSV3drs121909212
GWAS Ctlgrs121909212
GMAF0.0009183
Max Magnitude0
OMIM601692
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121909212(A;A) rs121909212(G;G) rs121909212(T;T)
Alt rs121909212(A;A) rs121909212(G;G) rs121909212(T;T)
Reference Rs121909212(C;C)
Significance Pathogenic
Disease Lattice corneal dystrophy type 3A
Variation info
Gene TGFBI
CLNDBN Lattice corneal dystrophy type 3A
Reversed 0
HGVS NC_000005.9:g.135391459C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008320.2,