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rs121909211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909211(A;A)
Make rs121909211(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position136046407
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909211
ebirs121909211
HLIrs121909211
Exacrs121909211
Varsomers121909211
Maprs121909211
PheGenIrs121909211
hapmaprs121909211
1000 genomesrs121909211
hgdprs121909211
ensemblrs121909211
gopubmedrs121909211
geneviewrs121909211
scholarrs121909211
googlers121909211
pharmgkbrs121909211
gwascentralrs121909211
openSNPrs121909211
23andMers121909211
23andMe allrs121909211
SNP Nexus

SNPshotrs121909211
SNPdbers121909211
MSV3drs121909211
GWAS Ctlgrs121909211
Merged fromRs121909213
Max Magnitude0
OMIM601692
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909211(A,T;A,T)
Alt rs121909211(A,T;A,T)
Reference rs121909211(G;G)
Significance Pathogenic
Disease Avellino corneal dystrophy Reis-Bucklers' corneal dystrophy
Variation info
Gene TGFBI
CLNDBN Avellino corneal dystrophy Reis-Bucklers' corneal dystrophy
Reversed 0
HGVS NC_000005.9:g.135382096G>A; NC_000005.9:g.135382096G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008318.2, RCV000008321.2,