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rs1049331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1049331(C;T)
Make rs1049331(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position122461754
GeneHTRA1
is asnp
is mentioned by
dbSNPrs1049331
ebirs1049331
HLIrs1049331
Exacrs1049331
Varsomers1049331
Maprs1049331
PheGenIrs1049331
hapmaprs1049331
1000 genomesrs1049331
hgdprs1049331
ensemblrs1049331
gopubmedrs1049331
geneviewrs1049331
scholarrs1049331
googlers1049331
pharmgkbrs1049331
gwascentralrs1049331
openSNPrs1049331
23andMers1049331
23andMe allrs1049331
SNP Nexus

SNPshotrs1049331
SNPdbers1049331
MSV3drs1049331
GWAS Ctlgrs1049331
GMAF0.2916
Max Magnitude0
[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.
Neighborrs2672598
Distance588
Neighborrs2293870
Distance6
[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
ClinVar
Risk rs1049331(T;T)
Alt rs1049331(T;T)
Reference rs1049331(C;C)
Significance Non-pathogenic
Disease Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Variation info
Gene HTRA1
CLNDBN Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
Reversed 0
HGVS NC_000010.10:g.124221270C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020489.1,


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


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

[PMID 23644223OA-icon.png] Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina

[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 26310622] Synonymous variants in HTRA1 implicated in AMD susceptibility impair its capacity to regulate TGF-β signaling