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rs3793917

From SNPedia

Orientationminus
Stabilizedminus
Make rs3793917(C;C)
Make rs3793917(C;G)
Make rs3793917(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position122459759
GeneHTRA1, LOC105378525
is asnp
is mentioned by
dbSNPrs3793917
dbSNP (classic)rs3793917
ClinGenrs3793917
ebirs3793917
HLIrs3793917
Exacrs3793917
Gnomadrs3793917
Varsomers3793917
LitVarrs3793917
Maprs3793917
PheGenIrs3793917
Biobankrs3793917
1000 genomesrs3793917
hgdprs3793917
ensemblrs3793917
geneviewrs3793917
scholarrs3793917
googlers3793917
pharmgkbrs3793917
gwascentralrs3793917
openSNPrs3793917
23andMers3793917
SNPshotrs3793917
SNPdbers3793917
MSV3drs3793917
GWAS Ctlgrs3793917
GMAF0.2796
Max Magnitude0
? (C;C) (C;G) (G;G) 28


nature age related macular degeneration is associated with five highly correlated SNPs (rs10490924, rs3750848, rs3793917, rs11200638 and rs932275; r2 < 0.88) showed strongest association with AMD (2.72 < OR < 2.86)


[PMID 19933195] Analysis of six genetic risk factors highly associated with AMD in the region surrounding ARMS2 and HTRA1 on chromosome 10q26

GWAS snp
PMID [PMID 20385819OA-icon.png]
Trait Age-related macular degeneration
Title Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration
Risk Allele G
P-val 4E-60
Odds Ratio 3.40 [2.94-3.94]

[PMID 17884985OA-icon.png] A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration.

[PMID 20140183OA-icon.png] Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

[PMID 20445115] An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.

[PMID 21878851OA-icon.png] Association between high-risk disease loci and response to anti-vascular endothelial growth factor treatment for wet age-related macular degeneration.

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


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

GWAS snp
PMID [PMID 23326517OA-icon.png]
Trait Age-related macular degeneration
Title Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis.
Risk Allele
P-val 4E-24
Odds Ratio 1.45 [1.35-1.56]


[PMID 24013816OA-icon.png] Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis


[PMID 26681391] Reticular Pseudodrusen and Their Association with Age-Related Macular Degeneration: The Melbourne Collaborative Cohort Study.