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rs2672598

From SNPedia

Orientationminus
Stabilizedminus
Make rs2672598(A;A)
Make rs2672598(A;G)
Make rs2672598(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position122461166
GeneHTRA1
is asnp
is mentioned by
dbSNPrs2672598
ebirs2672598
HLIrs2672598
Exacrs2672598
Varsomers2672598
Maprs2672598
PheGenIrs2672598
hapmaprs2672598
1000 genomesrs2672598
hgdprs2672598
ensemblrs2672598
gopubmedrs2672598
geneviewrs2672598
scholarrs2672598
googlers2672598
pharmgkbrs2672598
gwascentralrs2672598
openSNPrs2672598
23andMers2672598
23andMe allrs2672598
SNP Nexus

SNPshotrs2672598
SNPdbers2672598
MSV3drs2672598
GWAS Ctlgrs2672598
GMAF0.4826
Max Magnitude
[PMID 18316707OA-icon.png]
  • rs11200638 1.7x10-14 (-625G>A)is the most significant associated SNP with a high OR of 7.6 (95%CI: 3.94-14.51)
  • rs2672598 3.0x10-10 (-487T>C)
  • rs1049331 3.7x10-12 (102C>T, Ala34Ala)
  • rs2293870 3.7x10-12 (108G>T, Gly36Gly)
  • haplotype ACCTT, significantly predisposes to AMD (p= 6.68x10-14)
  • smoking and rs800292 (184G>A, Val62Ile) of CFH.
  • The combined OR for disease of smoking and rs11200638 (HTRA1) caused a 15.7 fold increased risk
  • The combined OR for rs800292 and rs11200638 showed a 23.3 fold increased risk
  • An extremely high population attributable risk (PAR) of 78% was also found.
Neighborrs11200638
Distance138
Neighborrs1049331
Distance588
[PMID 19796758OA-icon.png] Comprehensive Analysis of Complement Factor H and LOC387715/ARMS2/HTRA1 Variants with Respect to Phenotype in Advanced Age-related Macular Degeneration


[PMID 18436811] Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.


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