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

rs121909215

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909215(A;A)
Make rs121909215(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position136060898
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909215
dbSNP (classic)rs121909215
ClinGenrs121909215
ebirs121909215
HLIrs121909215
Exacrs121909215
Gnomadrs121909215
Varsomers121909215
LitVarrs121909215
Maprs121909215
PheGenIrs121909215
Biobankrs121909215
1000 genomesrs121909215
hgdprs121909215
ensemblrs121909215
geneviewrs121909215
scholarrs121909215
googlers121909215
pharmgkbrs121909215
gwascentralrs121909215
openSNPrs121909215
23andMers121909215
SNPshotrs121909215
SNPdbers121909215
MSV3drs121909215
GWAS Ctlgrs121909215
Max Magnitude0
OMIM601692
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121909215(A;A)
Alt rs121909215(A;A)
Reference Rs121909215(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.135396587G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008325.2,