Rs1329428

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Orientationminus
is asnp
is mentioned by
dbSNPrs1329428
PheGenIrs1329428
nextbiors1329428
hapmaprs1329428
1000 genomesrs1329428
hgdprs1329428
ensemblrs1329428
gopubmedrs1329428
geneviewrs1329428
scholarrs1329428
googlers1329428
pharmgkbrs1329428
gwascentralrs1329428
openSNPrs1329428
23andMers1329428
23andMe allrs1329428
SNP Nexus

SNPshotrs1329428
SNPdbers1329428
MSV3drs1329428
GeneCFH
Chromosome1
Orientationminus
GMAF0.4408
Position196733680
ReferenceGRCh38 38.1/141
Max Magnitude2.1
Geno Mag Summary
(A;A) 0 normal
(A;G)  ?
(G;G) 2.1 2x increased risk for macular degeneration
? (A;A) (A;G) (G;G) 28
linked to blindness in age related macular degeneration

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

Significant associations were detected for AMD with rs3753394 rs800292 rs1329428

A haplotype of rs1061170 rs3753394 rs800292 rs1329428 (TGTC) was found to confer a significantly increased likelihood of exudative AMD

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

GWAS snp
PMID [PMID 20861866OA-icon.png]
Trait
Title Genome-wide association identifies SKIV2L and MYRIP as protective factors for age-related macular degeneration
Risk Allele
P-val 3E-64
Odds Ratio 2.78 [NR]


[PMID 15761122OA-icon.png] Complement factor H polymorphism in age-related macular degeneration.


[PMID 16936733OA-icon.png] CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration.


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


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


[PMID 18421087] Multiple gene polymorphisms in the complement factor h gene are associated with exudative age-related macular degeneration in chinese.


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


[PMID 19187823] Coding variant I62V in the complement factor H gene is strongly associated with polypoidal choroidal vasculopathy.


[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 20161815OA-icon.png] SERPING1 polymorphisms in polypoidal choroidal vasculopathy.


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


[PMID 21111031] Correlation of complement factor H gene polymorphisms with exudative age-related macular degeneration in a Chinese cohort.


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


[PMID 24365176] Common variants in the complement factor H gene confer genetic susceptibility to central serous chorioretinopathy