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rs144288844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144288844(C;T)
Make rs144288844(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position91937058
GeneFBLN5
is asnp
is mentioned by
dbSNPrs144288844
dbSNP (classic)rs144288844
ClinGenrs144288844
ebirs144288844
HLIrs144288844
Exacrs144288844
Gnomadrs144288844
Varsomers144288844
LitVarrs144288844
Maprs144288844
PheGenIrs144288844
Biobankrs144288844
1000 genomesrs144288844
hgdprs144288844
ensemblrs144288844
geneviewrs144288844
scholarrs144288844
googlers144288844
pharmgkbrs144288844
gwascentralrs144288844
openSNPrs144288844
23andMers144288844
SNPshotrs144288844
SNPdbers144288844
MSV3drs144288844
GWAS Ctlgrs144288844
Max Magnitude0
ClinVar
Risk rs144288844(T;T)
Alt rs144288844(T;T)
Reference Rs144288844(C;C)
Significance Pathogenic
Disease Age-related macular degeneration 3 Macular degeneration
Variation info
Gene FBLN5
CLNDBN Age-related macular degeneration 3 Macular degeneration
Reversed 0
HGVS NC_000014.8:g.92403402C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202614.2, RCV000288309.1,