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rs2293870

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs2293870(C;C)
Make rs2293870(C;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position122461760
GeneHTRA1
is asnp
is mentioned by
dbSNPrs2293870
ebirs2293870
HLIrs2293870
Exacrs2293870
Varsomers2293870
Maprs2293870
PheGenIrs2293870
hapmaprs2293870
1000 genomesrs2293870
hgdprs2293870
ensemblrs2293870
gopubmedrs2293870
geneviewrs2293870
scholarrs2293870
googlers2293870
pharmgkbrs2293870
gwascentralrs2293870
openSNPrs2293870
23andMers2293870
23andMe allrs2293870
SNP Nexus

SNPshotrs2293870
SNPdbers2293870
MSV3drs2293870
GWAS Ctlgrs2293870
GMAF0.2842
Max Magnitude0
[PMID 18164066OA-icon.png] rs2293870 showed as strong an association with increased susceptibility to neovascular age related macular degeneration as the haplotypes containing rs10490924 and rs11200638.

[PMID 18207215] rs2293870 and rs11200638 are among the most significantly associated HTRA1 SNPs with age related macular degeneration.

Neighborrs11200638
Distance732
Neighborrs1049331
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 rs2293870(C,T;C,T)
Alt rs2293870(C,T;C,T)
Reference rs2293870(G;G)
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.124221276G>C; NC_000010.10:g.124221276G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020490.1, RCV000020491.1,


[PMID 18316707OA-icon.png] HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH.


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