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rs121434300

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434300(A;A)
Make rs121434300(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position91937114
GeneFBLN5
is asnp
is mentioned by
dbSNPrs121434300
dbSNP (classic)rs121434300
ClinGenrs121434300
ebirs121434300
HLIrs121434300
Exacrs121434300
Gnomadrs121434300
Varsomers121434300
LitVarrs121434300
Maprs121434300
PheGenIrs121434300
Biobankrs121434300
1000 genomesrs121434300
hgdprs121434300
ensemblrs121434300
geneviewrs121434300
scholarrs121434300
googlers121434300
pharmgkbrs121434300
gwascentralrs121434300
openSNPrs121434300
23andMers121434300
SNPshotrs121434300
SNPdbers121434300
MSV3drs121434300
GWAS Ctlgrs121434300
Merged fromRs28939372
Max Magnitude0
OMIM604580
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434300(A;A)
Alt rs121434300(A;A)
Reference Rs121434300(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.92403458C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005812.4,