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rs9332739

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2.1 0.47x decreased risk for AMD
(C;G) 2.1 0.47x decreased risk for AMD
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome6
Position31936027
GeneC2, LOC102060414
is asnp
is mentioned by
dbSNPrs9332739
ebirs9332739
HLIrs9332739
Exacrs9332739
Varsomers9332739
Maprs9332739
PheGenIrs9332739
hapmaprs9332739
1000 genomesrs9332739
hgdprs9332739
ensemblrs9332739
gopubmedrs9332739
geneviewrs9332739
scholarrs9332739
googlers9332739
pharmgkbrs9332739
gwascentralrs9332739
openSNPrs9332739
23andMers9332739
23andMe allrs9332739
SNP Nexus

SNPshotrs9332739
SNPdbers9332739
MSV3drs9332739
GWAS Ctlgrs9332739
GMAF0.0303
Max Magnitude2.1
? (C;C) (C;G) (G;G) 28
age related macular degeneration [PMID 16518403OA-icon.png]


[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
Variant0004
Relatedalso
GWAS snp
PMID [PMID 21665990OA-icon.png]
Trait
Title Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Risk Allele
P-val 2E-23
Odds Ratio 2.1700 [NR]


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


[PMID 22699975OA-icon.png] Genetic analysis of simultaneous geographic atrophy and choroidal neovascularization


ClinVar
Risk rs9332739(C;C)
Alt rs9332739(C;C)
Reference rs9332739(G;G)
Significance Pathogenic
Disease Age-related macular degeneration 14
Variation info
Gene C2-AS1 C2
CLNDBN Age-related macular degeneration 14
Reversed 0
HGVS NC_000006.11:g.31903804G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012913.4,



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

[PMID 18493315OA-icon.png] C2 and CFB genes in age-related maculopathy and joint action with CFH and LOC387715 genes.

[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 19169232] Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

[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 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 21402993OA-icon.png] Assessing susceptibility to age-related macular degeneration with genetic markers and environmental factors.

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

GWAS snp
PMID [PMID 22705344OA-icon.png]
Trait
Title Heritability and Genome-Wide Association Study to Assess Genetic Differences between Advanced Age-Related Macular Degeneration Subtypes.
Risk Allele
P-val 2E-8
Odds Ratio 2.0800 None


GET Evidence
C2-E318D
aa_change Glu318Asp
aa_change_short E318D
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.046875
summary



[PMID 23313922] Complement gene single nucleotide polymorphisms and biomarker endophenotypes of Alzheimer's disease


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