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rs121909209

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909209(A;A)
Make rs121909209(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position136056781
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909209
dbSNP (classic)rs121909209
ClinGenrs121909209
ebirs121909209
HLIrs121909209
Exacrs121909209
Gnomadrs121909209
Varsomers121909209
LitVarrs121909209
Maprs121909209
PheGenIrs121909209
Biobankrs121909209
1000 genomesrs121909209
hgdprs121909209
ensemblrs121909209
geneviewrs121909209
scholarrs121909209
googlers121909209
pharmgkbrs121909209
gwascentralrs121909209
openSNPrs121909209
23andMers121909209
SNPshotrs121909209
SNPdbers121909209
MSV3drs121909209
GWAS Ctlgrs121909209
Max Magnitude0
OMIM601692
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909209(A;A)
Alt rs121909209(A;A)
Reference Rs121909209(G;G)
Significance Pathogenic
Disease Thiel-Behnke corneal dystrophy
Variation info
Gene TGFBI
CLNDBN Thiel-Behnke corneal dystrophy
Reversed 0
HGVS NC_000005.9:g.135392470G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008316.3,