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rs380390

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 2.1 increased risk for ARMD
(C;G) None
(G;G) 0
ReferenceGRCh38 38.1/141
Chromosome1
Position196731921
GeneCFH
is asnp
is mentioned by
dbSNPrs380390
ebirs380390
HLIrs380390
Exacrs380390
Varsomers380390
Maprs380390
PheGenIrs380390
hapmaprs380390
1000 genomesrs380390
hgdprs380390
ensemblrs380390
gopubmedrs380390
geneviewrs380390
scholarrs380390
googlers380390
pharmgkbrs380390
gwascentralrs380390
openSNPrs380390
23andMers380390
23andMe allrs380390
SNP Nexus

SNPshotrs380390
SNPdbers380390
MSV3drs380390
GWAS Ctlgrs380390
GMAF0.2576
Max Magnitude2.1
? (C;C) (C;G) (G;G) 28
linked to blindness in old age

rs3753394, rs800292, rs1061147, rs1061170, rs380390, and rs1329428

CFH variations appear to contribute to ARMD in Caucasians, but not in Japanese [PMID 16710702]

GWAS
SNP rs380390
PubMedID [PMID 15761122OA-icon.png]
Condition Age-related macular degeneration
Gene CFH
Risk Allele C
pValue 4.00E-008
OR 4.6
95% CI 2.0-11


OMIM610698
DescMACULAR DEGENERATION, AGE-RELATED, 4; ARMD4
Variant
Relatedalso
OMIM134370
DescCOMPLEMENT FACTOR H; CFH
Variant
Relatedalso
OMIM609413
DescEXCISION-REPAIR CROSS-COMPLEMENTING, GROUP 6; ERCC6
Variant
Relatedalso


OMIM609413
Desc
Variant0010
Relatedalso


[PMID 21882633] [Influence of genetic mutations on clinical presentation of subretinal neovascularization. Report 1: The impact of CFH and IL-8 genes polymorphism]


[PMID 16754848OA-icon.png] Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition.


[PMID 17167412] Association of complement factor H polymorphisms with exudative age-related macular degeneration.


[PMID 17917691OA-icon.png] Genetic markers and biomarkers for age-related macular degeneration.


[PMID 18048322OA-icon.png] A forest-based approach to identifying gene and gene gene interactions.


[PMID 18601744OA-icon.png] Combining identity by descent and association in genetic case-control studies.


[PMID 18718667OA-icon.png] The HtrA1 promoter polymorphism, smoking, and age-related macular degeneration in multiple case-control samples.


[PMID 19026761OA-icon.png] Molecular pathology of age-related macular degeneration.


[PMID 19208169OA-icon.png] A random forest approach to the detection of epistatic interactions in case-control studies.


[PMID 19412524OA-icon.png] Epistatic module detection for case-control studies: a Bayesian model with a Gibbs sampling strategy.


[PMID 19958499OA-icon.png] A particle swarm based hybrid system for imbalanced medical data sampling.


[PMID 20122224OA-icon.png] A multi-filter enhanced genetic ensemble system for gene selection and sample classification of microarray data.


[PMID 20181037OA-icon.png] Incorporating prior knowledge to facilitate discoveries in a genome-wide association study on age-related macular degeneration.


[PMID 20881291OA-icon.png] Persons with age-related maculopathy risk genotypes and clinically normal eyes have reduced mesopic vision.


[PMID 21342556OA-icon.png] The choice of null distributions for detecting gene-gene interactions in genome-wide association studies.


[PMID 22618592] Association of genetic polymorphisms and age-related macular degeneration in chinese population.


GET Evidence
rs380390
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.710938
summary