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rs141853578

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 5.4 High risk for age-related macular degeneration
Make rs141853578(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position109764664
GeneCFI
is asnp
is mentioned by
dbSNPrs141853578
dbSNP (old)rs141853578
ClinGenrs141853578
ebirs141853578
HLIrs141853578
Exacrs141853578
Gnomadrs141853578
Varsomers141853578
LitVarrs141853578
Maprs141853578
PheGenIrs141853578
Biobankrs141853578
1000 genomesrs141853578
hgdprs141853578
ensemblrs141853578
gopubmedrs141853578
geneviewrs141853578
scholarrs141853578
googlers141853578
pharmgkbrs141853578
gwascentralrs141853578
openSNPrs141853578
23andMers141853578
23andMe allrs141853578
SNPshotrs141853578
SNPdbers141853578
MSV3drs141853578
GWAS Ctlgrs141853578
Max Magnitude5.4

c.355G>A, p.Gly119Arg, G119R

[PMID 23685748] This 2013 publication reports that rs141853578(T) is a rare, highly penetrant dominantly inherited missense mutation in the CFI gene conferring high risk for age-related macular degeneration (ARMD); (p = 3.79 × 10e-6; odds ratio 22.2, CI: 2.98-164.49).

ClinVar
Risk rs141853578(T;T)
Alt rs141853578(T;T)
Reference Rs141853578(C;C)
Significance Other
Disease MACULAR DEGENERATION Atypical hemolytic-uremic syndrome 3 not specified
Variation info
Gene CFI
CLNDBN MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO Atypical hemolytic-uremic syndrome 3 not specified
Reversed 0
HGVS NC_000004.11:g.110685820C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000056257.2, RCV000056258.2, RCV000421445.1,