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rs121909213

From SNPedia

Merged intors121909211
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909213(G;T)
Make rs121909213(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position136046407
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909213
dbSNP (classic)rs121909213
ClinGenrs121909213
ebirs121909213
HLIrs121909213
Exacrs121909213
Gnomadrs121909213
Varsomers121909213
LitVarrs121909213
Maprs121909213
PheGenIrs121909213
Biobankrs121909213
1000 genomesrs121909213
hgdprs121909213
ensemblrs121909213
geneviewrs121909213
scholarrs121909213
googlers121909213
pharmgkbrs121909213
gwascentralrs121909213
openSNPrs121909213
23andMers121909213
SNPshotrs121909213
SNPdbers121909213
MSV3drs121909213
GWAS Ctlgrs121909213
StatusMerged into rs121909211
Max Magnitude0
OMIM601692
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909213(T;T)
Alt rs121909213(T;T)
Reference Rs121909213(G;G)
Significance Pathogenic
Disease Reis-Bucklers' corneal dystrophy
Variation info
Gene TGFBI
CLNDBN Reis-Bucklers' corneal dystrophy
Reversed 0
HGVS NC_000005.9:g.135382096G>T
CLNSRC OMIM Allelic Variant
CLNACC SCV000028529.1,