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rs121909217

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909217(C;C)
Make rs121909217(C;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position136062674
GeneSDHAF2, TGFBI
is asnp
is mentioned by
dbSNPrs121909217
ebirs121909217
HLIrs121909217
Exacrs121909217
Varsomers121909217
Maprs121909217
PheGenIrs121909217
hapmaprs121909217
1000 genomesrs121909217
hgdprs121909217
ensemblrs121909217
gopubmedrs121909217
geneviewrs121909217
scholarrs121909217
googlers121909217
pharmgkbrs121909217
gwascentralrs121909217
openSNPrs121909217
23andMers121909217
23andMe allrs121909217
SNP Nexus

SNPshotrs121909217
SNPdbers121909217
MSV3drs121909217
GWAS Ctlgrs121909217
GMAF0.001377
Max Magnitude0
OMIM601692
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909217(C;C)
Alt rs121909217(C;C)
Reference rs121909217(G;G)
Significance Pathogenic
Disease Corneal epithelial dystrophy
Variation info
Gene TGFBI
CLNDBN Corneal epithelial dystrophy
Reversed 0
HGVS NC_000005.9:g.135398363G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008327.3,