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rs28939073

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28939073(C;T)
Make rs28939073(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position91877621
GeneFBLN5
is asnp
is mentioned by
dbSNPrs28939073
dbSNP (classic)rs28939073
ClinGenrs28939073
ebirs28939073
HLIrs28939073
Exacrs28939073
Gnomadrs28939073
Varsomers28939073
LitVarrs28939073
Maprs28939073
PheGenIrs28939073
Biobankrs28939073
1000 genomesrs28939073
hgdprs28939073
ensemblrs28939073
geneviewrs28939073
scholarrs28939073
googlers28939073
pharmgkbrs28939073
gwascentralrs28939073
openSNPrs28939073
23andMers28939073
SNPshotrs28939073
SNPdbers28939073
MSV3drs28939073
GWAS Ctlgrs28939073
Max Magnitude0
OMIM604580
DescMACULAR DEGENERATION, AGE-RELATED, 3
Variant0007
Relatedalso
ClinVar
Risk rs28939073(T;T)
Alt rs28939073(T;T)
Reference Rs28939073(C;C)
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.92343965G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005815.4,