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rs267607110

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607110(A;A)
Make rs267607110(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position136056769
GeneTGFBI
is asnp
is mentioned by
dbSNPrs267607110
dbSNP (classic)rs267607110
ClinGenrs267607110
ebirs267607110
HLIrs267607110
Exacrs267607110
Gnomadrs267607110
Varsomers267607110
LitVarrs267607110
Maprs267607110
PheGenIrs267607110
Biobankrs267607110
1000 genomesrs267607110
hgdprs267607110
ensemblrs267607110
geneviewrs267607110
scholarrs267607110
googlers267607110
pharmgkbrs267607110
gwascentralrs267607110
openSNPrs267607110
23andMers267607110
SNPshotrs267607110
SNPdbers267607110
MSV3drs267607110
GWAS Ctlgrs267607110
Max Magnitude0
ClinVar
Risk rs267607110(A;A)
Alt rs267607110(A;A)
Reference Rs267607110(C;C)
Significance Pathogenic
Disease Lattice corneal dystrophy Type I
Variation info
Gene TGFBI
CLNDBN Lattice corneal dystrophy Type I
Reversed 0
HGVS NC_000005.9:g.135392458C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008323.3,