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rs28939072

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28939072(C;C)
Make rs28939072(C;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position91891334
GeneFBLN5
is asnp
is mentioned by
dbSNPrs28939072
dbSNP (classic)rs28939072
ClinGenrs28939072
ebirs28939072
HLIrs28939072
Exacrs28939072
Gnomadrs28939072
Varsomers28939072
LitVarrs28939072
Maprs28939072
PheGenIrs28939072
Biobankrs28939072
1000 genomesrs28939072
hgdprs28939072
ensemblrs28939072
geneviewrs28939072
scholarrs28939072
googlers28939072
pharmgkbrs28939072
gwascentralrs28939072
openSNPrs28939072
23andMers28939072
SNPshotrs28939072
SNPdbers28939072
MSV3drs28939072
GWAS Ctlgrs28939072
Max Magnitude0
OMIM604580
DescMACULAR DEGENERATION, AGE-RELATED, 3
Variant0006
Relatedalso
ClinVar
Risk rs28939072(C;C)
Alt rs28939072(C;C)
Reference Rs28939072(T;T)
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.92357678A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005814.4,