Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909216(G;G)
Make rs121909216(G;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position136055795
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909216
dbSNP (classic)rs121909216
ClinGenrs121909216
ebirs121909216
HLIrs121909216
Exacrs121909216
Gnomadrs121909216
Varsomers121909216
LitVarrs121909216
Maprs121909216
PheGenIrs121909216
Biobankrs121909216
1000 genomesrs121909216
hgdprs121909216
ensemblrs121909216
geneviewrs121909216
scholarrs121909216
googlers121909216
pharmgkbrs121909216
gwascentralrs121909216
openSNPrs121909216
23andMers121909216
SNPshotrs121909216
SNPdbers121909216
MSV3drs121909216
GWAS Ctlgrs121909216
Max Magnitude0
OMIM601692
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121909216(G;G)
Alt rs121909216(G;G)
Reference Rs121909216(T;T)
Significance Pathogenic
Disease Corneal epithelial dystrophy
Variation info
Gene TGFBI
CLNDBN Corneal epithelial dystrophy
Reversed 0
HGVS NC_000005.9:g.135391484T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008326.2,