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rs547154

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Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2.1 0.47x decreased risk for AMD
(A;C) 2.1 0.47x decreased risk for AMD
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position31943161
GeneC2, LOC102060414
is asnp
is mentioned by
dbSNPrs547154
ebirs547154
HLIrs547154
Exacrs547154
Varsomers547154
Maprs547154
PheGenIrs547154
hapmaprs547154
1000 genomesrs547154
hgdprs547154
ensemblrs547154
gopubmedrs547154
geneviewrs547154
scholarrs547154
googlers547154
pharmgkbrs547154
gwascentralrs547154
openSNPrs547154
23andMers547154
23andMe allrs547154
SNP Nexus

SNPshotrs547154
SNPdbers547154
MSV3drs547154
GWAS Ctlgrs547154
GMAF0.09963
Max Magnitude2.1
? (A;A) (A;C) (C;C) 28
[PMID 18493315OA-icon.png] rs547154 significantly associated with Age-related maculopathy in both our case-control (P-value 0.00007) and family data (P-value 0.00001).


[PMID 19399715] Impact of interacting functional variants in COMT on regional gray matter volume in human brain

OMIM217000
DescCOMPLEMENT COMPONENT 2 DEFICIENCY
Variant
Relatedalso

[PMID 19556007] Role of RDBP and SKIV2L variants in the major histocompatibility complex class III region in polypoidal choroidal vasculopathy etiology

OMIM217000
Desc
Variant0005
Relatedalso


[PMID 22440158] CFB/C2 Gene Polymorphisms and Risk of Age-Related Macular Degeneration: A Systematic Review and Meta-Analysis


[PMID 22509112OA-icon.png] Genetic associations in polypoidal choroidal vasculopathy: A systematic review and meta-analysis


[PMID 17576744] Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration.


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


[PMID 18806293] Analysis of rare variants in the complement component 2 (C2) and factor B (BF) genes refine association for age-related macular degeneration (AMD).


[PMID 18806297] Further assessment of the complement component 2 and factor B region associated with age-related macular degeneration.


[PMID 19169411OA-icon.png] Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects.


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


[PMID 19696172] The involvement of complement factor B and complement component C2 in an Indian cohort with age-related macular degeneration.


[PMID 20157352OA-icon.png] Genetic analysis of typical wet-type age-related macular degeneration and polypoidal choroidal vasculopathy in Japanese population.


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


[PMID 21609242] Age-related macular degeneration-susceptibility single nucleotide polymorphisms in a han chinese control population.


[PMID 22232432] Significance of C2/CFB variants in age-related macular degeneration and polypoidal choroidal vasculopathy in a Japanese population.


[PMID 22273503] Association of polymorphisms in C2, CFB and C3 with exudative age-related macular degeneration in a Korean population.


[PMID 23582991] Genetic Influences on the Outcome of Anti-Vascular Endothelial Growth Factor Treatment in Neovascular Age-related Macular Degeneration


[PMID 25732348OA-icon.png] C2 rs547154 polymorphism and polypoidal choroidal vasculopathy susceptibility: a meta-analysis


ClinVar
Risk rs547154(A;A)
Alt rs547154(A;A)
Reference rs547154(C;C)
Significance Other
Disease Age-related macular degeneration 14
Variation info
Gene C2-AS1 C2
CLNDBN Age-related macular degeneration 14
Reversed 1
HGVS NC_000006.11:g.31910938G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012914.4,



[PMID 27099955] Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials.