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rs267607109

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs267607109(A;A)
Make rs267607109(A;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position136056754
GeneTGFBI
is asnp
is mentioned by
dbSNPrs267607109
dbSNP (classic)rs267607109
ClinGenrs267607109
ebirs267607109
HLIrs267607109
Exacrs267607109
Gnomadrs267607109
Varsomers267607109
LitVarrs267607109
Maprs267607109
PheGenIrs267607109
Biobankrs267607109
1000 genomesrs267607109
hgdprs267607109
ensemblrs267607109
geneviewrs267607109
scholarrs267607109
googlers267607109
pharmgkbrs267607109
gwascentralrs267607109
openSNPrs267607109
23andMers267607109
SNPshotrs267607109
SNPdbers267607109
MSV3drs267607109
GWAS Ctlgrs267607109
Max Magnitude0
ClinVar
Risk rs267607109(A;A)
Alt rs267607109(A;A)
Reference Rs267607109(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.135392443C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008323.3,