SNP Detail For rs641153
1.Mapping Information
Human SNP ID rs641153
Human chromosome chr6
Human SNP position 31946403
Pig chromosome chr7
Pig SNP position 27777446
2.Annotation Information
PubMed ID21665990
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21665990
StudyCommon variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Disease/TraitAge-related macular degeneration
Initial sample2,594 European ancestry cases, 4,134 European ancestry controls
Replication sample5,640 European ancestry cases, 52,174 European ancestry controls
Region6p21.33
Chromosome idchr6
Chromosome position31946403
Reported geneCFB
Mapped geneCFB
Upstream gene id
Downstream gene id
SNP gene ids629
Upstream gene distance
Downstream gene distance
SNP risk allelers641153-?
SNPsrs641153
Merged0
SNP id current641153
Contextmissense_variant
Intergenic0
Allele frequency0.9
P value6E-31
Pvalue mlog30.2218487496163
P value text
Or beta1.85
%95 Ci[NR]
PlatformAffymetrix [6036699] (imputed)
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST001100
PubMed ID20385826
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/20385826
StudyGenome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Disease/TraitAge-related macular degeneration
Initial sample979 cases, 1,709 controls
Replication sample868 European ancestry cases, 410 European ancestry controls, 4,921 cases, 3,824 controls
Region6p21.33
Chromosome idchr6
Chromosome position31946403
Reported geneCFB, C2
Mapped geneCFB
Upstream gene id
Downstream gene id
SNP gene ids629
Upstream gene distance
Downstream gene distance
SNP risk allelers641153-?
SNPsrs641153
Merged0
SNP id current641153
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value2E-20
Pvalue mlog19.698970004336
P value text
Or beta
%95 Ci
PlatformAffymetrix [632932]
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST000653
PubMed ID22705344
JournalOphthalmology
Linkwww.ncbi.nlm.nih.gov/pubmed/22705344
StudyHeritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Disease/TraitAge-related macular degeneration (CNV)
Initial sample1,775 European ancestry choroidal neovascularization cases, 4,134 European ancestry controls
Replication sample4,515 European and unknown ancestry choroidal neovascularization cases, 15,240 European and unknown ancestry controls
Region6p21.33
Chromosome idchr6
Chromosome position31946403
Reported geneCFB
Mapped geneCFB
Upstream gene id
Downstream gene id
SNP gene ids629
Upstream gene distance
Downstream gene distance
SNP risk allelers641153-?
SNPsrs641153
Merged0
SNP id current641153
Contextmissense_variant
Intergenic0
Allele frequency0.899
P value0.00000000000000001
Pvalue mlog17
P value text
Or beta2.22
%95 Ci[1.85-2.63]
PlatformAffymetrix, Illumina [6036699] (imputed)
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST001579
PubMed ID22705344
JournalOphthalmology
Linkwww.ncbi.nlm.nih.gov/pubmed/22705344
StudyHeritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Disease/TraitAge-related macular degeneration (GA)
Initial sample819 European ancestry geographic atrophy cases, 4,134 European ancestry controls
Replication sampleNA
Region6p21.33
Chromosome idchr6
Chromosome position31946403
Reported geneCFB
Mapped geneCFB
Upstream gene id
Downstream gene id
SNP gene ids629
Upstream gene distance
Downstream gene distance
SNP risk allelers641153-?
SNPsrs641153
Merged0
SNP id current641153
Contextmissense_variant
Intergenic0
Allele frequency0.899
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta2.13
%95 Ci[1.69-2.7]
PlatformAffymetrix, Illumina [6036699] (imputed)
CNVN
Mapped traitage-related macular degeneration
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001365
Study accessionGCST001578