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rs121909208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909208(C;T)
Make rs121909208(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position136056780
GeneTGFBI
is asnp
is mentioned by
dbSNPrs121909208
ebirs121909208
HLIrs121909208
Exacrs121909208
Varsomers121909208
Maprs121909208
PheGenIrs121909208
hapmaprs121909208
1000 genomesrs121909208
hgdprs121909208
ensemblrs121909208
gopubmedrs121909208
geneviewrs121909208
scholarrs121909208
googlers121909208
pharmgkbrs121909208
gwascentralrs121909208
openSNPrs121909208
23andMers121909208
23andMe allrs121909208
SNP Nexus

SNPshotrs121909208
SNPdbers121909208
MSV3drs121909208
GWAS Ctlgrs121909208
Max Magnitude0
OMIM601692
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121909208(T;T)
Alt rs121909208(T;T)
Reference rs121909208(C;C)
Significance Pathogenic
Disease Groenouw corneal dystrophy type I
Variation info
Gene TGFBI
CLNDBN Groenouw corneal dystrophy type I
Reversed 0
HGVS NC_000005.9:g.135392469C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008315.2,