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rs121434299

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434299(C;C)
Make rs121434299(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position91937148
GeneFBLN5
is asnp
is mentioned by
dbSNPrs121434299
dbSNP (classic)rs121434299
ClinGenrs121434299
ebirs121434299
HLIrs121434299
Exacrs121434299
Gnomadrs121434299
Varsomers121434299
LitVarrs121434299
Maprs121434299
PheGenIrs121434299
Biobankrs121434299
1000 genomesrs121434299
hgdprs121434299
ensemblrs121434299
geneviewrs121434299
scholarrs121434299
googlers121434299
pharmgkbrs121434299
gwascentralrs121434299
openSNPrs121434299
23andMers121434299
SNPshotrs121434299
SNPdbers121434299
MSV3drs121434299
GWAS Ctlgrs121434299
Merged fromRs28939371
Max Magnitude0
OMIM604580
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434299(C;C)
Alt rs121434299(C;C)
Reference Rs121434299(G;G)
Significance Pathogenic
Disease Age-related macular degeneration 3
Variation info
Gene FBLN5
CLNDBN Age-related macular degeneration 3
Reversed 1
HGVS NC_000014.8:g.92403492C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005811.3,