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rs1410996

From SNPedia

Orientationminus
Stabilizedminus
Make rs1410996(C;C)
Make rs1410996(C;T)
Make rs1410996(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196727803
GeneCFH
is asnp
is mentioned by
dbSNPrs1410996
ebirs1410996
HLIrs1410996
Exacrs1410996
Varsomers1410996
Maprs1410996
PheGenIrs1410996
hapmaprs1410996
1000 genomesrs1410996
hgdprs1410996
ensemblrs1410996
gopubmedrs1410996
geneviewrs1410996
scholarrs1410996
googlers1410996
pharmgkbrs1410996
gwascentralrs1410996
openSNPrs1410996
23andMers1410996
23andMe allrs1410996
SNP Nexus

SNPshotrs1410996
SNPdbers1410996
MSV3drs1410996
GWAS Ctlgrs1410996
GMAF0.461
Max Magnitude
? (C;C) (C;T) (T;T) 28
age related macular degeneration [PMID 16936733OA-icon.png]
OMIM134370
DescCOMPLEMENT FACTOR H; CFH
Variant
Relatedalso

[PMID 19850835] The noncoding variant in complement factor H gene increases risk of exudative age-related macular degeneration in a Chinese population


[PMID 20132989] Phenotype and Genotype Characteristics of Age-related Macular Degeneration in a Japanese Population

GWAS snp
PMID [PMID 20385826OA-icon.png]
Trait Age-related macular degeneration
Title Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC)
Risk Allele
P-val 2E-111
Odds Ratio None None

[PMID 20678803] Complement Factor H and High-Temperature Requirement A-1 Genotypes and Treatment Response of Age-related Macular Degeneration

OMIM134371
DescCOMPLEMENT FACTOR H-RELATED 1; CFHR1
Variant
Relatedalso
OMIM605336
DescCOMPLEMENT FACTOR H-RELATED 3; CFHR3
Variant
Relatedalso
[PMID 21139980OA-icon.png] Associations of smoking, body mass index, dietary lutein, and the LIPC gene variant rs10468017 with advanced age-related macular degeneration
OMIM134370
Desc
Variant0016
Relatedalso
OMIM610698
Desc
Variant
Relatedalso
[PMID 22019782OA-icon.png] A rare penetrant mutation in CFH confers high risk of age-related macular degeneration


[PMID 17327825OA-icon.png] An update on the genetics of age-related macular degeneration.


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


[PMID 17962488] Coding and noncoding variants in the CFH gene and cigarette smoking influence the risk of age-related macular degeneration in a Japanese population.


[PMID 18043728OA-icon.png] Haplotypes in the complement factor H (CFH) gene: associations with drusen and advanced age-related macular degeneration.


[PMID 18081690OA-icon.png] Translational mini-review series on complement factor H: genetics and disease associations of human complement factor H.


[PMID 19117936OA-icon.png] Prediction model for prevalence and incidence of advanced age-related macular degeneration based on genetic, demographic, and environmental variables.


[PMID 19187590] Genetic variants in three genes and smoking show strong associations with susceptibility to exudative age-related macular degeneration in a Chinese population.


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


[PMID 19259132OA-icon.png] Multilocus analysis of age-related macular degeneration.


[PMID 19661236OA-icon.png] Plasma complement components and activation fragments: associations with age-related macular degeneration genotypes and phenotypes.


[PMID 19861685OA-icon.png] Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4, and with mutations in CFH, CFI, CD46, and C3 in patients with atypical hemolytic uremic syndrome.


[PMID 20157618OA-icon.png] Complement component 3: an assessment of association with AMD and analysis of gene-gene and gene-environment interactions in a Northern Irish cohort.


[PMID 20378180OA-icon.png] Three major loci involved in age-related macular degeneration are also associated with polypoidal choroidal vasculopathy.


[PMID 21665990OA-icon.png] Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.


[PMID 21906714OA-icon.png] Evaluation of new and established age-related macular degeneration susceptibility genes in the Women's Health Initiative Sight Exam (WHI-SE) Study.


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


[PMID 23534868] CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) Gene Polymorphisms are Associated with AMD Risk in Spanish Patients

GWAS snp
PMID [PMID 23381943OA-icon.png]
Trait End-stage coagulation
Title Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
Risk Allele G
P-val 1E-9
Odds Ratio .20 [0.14-0.27] unit increase


[PMID 23233260OA-icon.png] Association between polymorphisms of complement pathway genes and age-related macular degeneration in a Chinese population.


[PMID 23414945] Influence of CFH, HTRA1 and ARMS2 haplotype polymorphisms in the development of age-related macular disease


[PMID 24865190] Association of Specific Genetic Polymorphisms with Age-related Macular Degeneration in a Northern Chinese Population


ClinVar
Risk rs1410996(T;T)
Alt rs1410996(T;T)
Reference rs1410996(C;C)
Significance Other
Disease Age-related macular degeneration 4
Variation info
Gene CFH
CLNDBN Age-related macular degeneration 4
Reversed 1
HGVS NC_000001.10:g.196696933G\x3d
CLNSRC OMIM Allelic Variant
CLNACC RCV000018024.3,



[PMID 24974817] No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38


[PMID 24675670OA-icon.png] Impact of the common genetic associations of age-related macular degeneration upon systemic complement component C3d levels