SNP Detail For rs6677604
1.Mapping Information
Human SNP ID rs6677604
Human chromosome chr1
Human SNP position 196717788
Pig chromosome chr10
Pig SNP position 24389576
2.Annotation Information
PubMed ID21399633
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21399633
StudyGenome-wide association study identifies susceptibility loci for IgA nephropathy.
Disease/TraitNephropathy
Initial sample1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls
Replication sample712 Han Chinese ancestry cases, 748 Han Chinese ancestry controls, 1,238 European ancestry cases, 1,172 European ancestry controls
Region1q31.3
Chromosome idchr1
Chromosome position196717788
Reported geneCFHR1, CFHR4, CHFR2, CFHR3, CFHR5, CFH
Mapped geneCFH
Upstream gene id
Downstream gene id
SNP gene ids3075
Upstream gene distance
Downstream gene distance
SNP risk allelers6677604-?
SNPsrs6677604
Merged0
SNP id current6677604
Contextintron_variant
Intergenic0
Allele frequency0.77 (EA)
P value0.0000000003
Pvalue mlog9.52287874528033
P value text
Or beta1.47
%95 Ci[NR]
PlatformIllumina [498322]
CNVN
Mapped traitkidney disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003086
Study accessionGCST001009
PubMed ID25305756
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25305756
StudyDiscovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Disease/TraitIgA nephropathy
Initial sample1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls
Replication sample2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls
Region1q31.3
Chromosome idchr1
Chromosome position196717788
Reported geneCFHR3, CFHR1
Mapped geneCFH
Upstream gene id
Downstream gene id
SNP gene ids3075
Upstream gene distance
Downstream gene distance
SNP risk allelers6677604-G
SNPsrs6677604
Merged0
SNP id current6677604
Contextintron_variant
Intergenic0
Allele frequency0.8
P value0.00000000000005
Pvalue mlog13.3010299956639
P value text
Or beta1.35
%95 Ci[NR]
PlatformIllumina [> 1000000] (imputed)
CNVN
Mapped traitIGA glomerulonephritis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004194
Study accessionGCST002655
PubMed ID25305756
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25305756
StudyDiscovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Disease/TraitIgA nephropathy
Initial sample1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls
Replication sample2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls
Region1q31.3
Chromosome idchr1
Chromosome position196717788
Reported geneCFHR3
Mapped geneCFH
Upstream gene id
Downstream gene id
SNP gene ids3075
Upstream gene distance
Downstream gene distance
SNP risk allelers6677604-G
SNPsrs6677604
Merged0
SNP id current6677604
Contextintron_variant
Intergenic0
Allele frequency0.8
P value0.000000002
Pvalue mlog8.69897000433601
P value text(EA)
Or beta1.3
%95 Ci[NR]
PlatformIllumina [> 1000000] (imputed)
CNVN
Mapped traitIGA glomerulonephritis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004194
Study accessionGCST002655
PubMed ID25305756
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25305756
StudyDiscovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens.
Disease/TraitIgA nephropathy
Initial sample1,194 Han Chinese ancestry cases, 902 Han Chinese ancestry controls, 1,553 European ancestry cases, 3,050 European ancestry controls
Replication sample2,491 East Asian ancestry cases, 1,780 East Asian ancestry controls, 2,420 European ancestry cases, 7,222 European ancestry controls
Region1q31.3
Chromosome idchr1
Chromosome position196717788
Reported geneCFHR3
Mapped geneCFH
Upstream gene id
Downstream gene id
SNP gene ids3075
Upstream gene distance
Downstream gene distance
SNP risk allelers6677604-G
SNPsrs6677604
Merged0
SNP id current6677604
Contextintron_variant
Intergenic0
Allele frequency0.93
P value0.0000007
Pvalue mlog6.15490195998574
P value text(East Asian)
Or beta1.57
%95 Ci[NR]
PlatformIllumina [> 1000000] (imputed)
CNVN
Mapped traitIGA glomerulonephritis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004194
Study accessionGCST002655