Human SNP ID | rs10206899 |
---|---|
Human chromosome | chr2 |
Human SNP position | 73673773 |
Pig chromosome | chr3 |
Pig SNP position | 72467415 |
PubMed ID | 20383145 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/20383145 |
Study | Genetic loci influencing kidney function and chronic kidney disease. |
Disease/Trait | Creatinine levels |
Initial sample | 23,812 European ancestry individuals |
Replication sample | 16,626 European ancestry individuals |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8, TPRKB, DUSP11, NAT8B, ALMS1 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-G |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.22 |
P value | 0.000000000000001 |
Pvalue mlog | 15 |
P value text | |
Or beta | 1 |
%95 Ci | [0.7-1.2] % decrease |
Platform | Affymetrix, Illumina, Perlegen [~ 2600000] (imputed) |
CNV | N |
Mapped trait | serum creatinine measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004518 |
Study accession | GCST000651 |
PubMed ID | 23535967 |
Journal | J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23535967 |
Study | Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. |
Disease/Trait | Glomerular filtration rate |
Initial sample | 9,049 European ancestry individuals |
Replication sample | |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-C |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.00000004 |
Pvalue mlog | 7.39794000867203 |
P value text | (Single-measure model) |
Or beta | 1.17 |
%95 Ci | [0.76-1.58] unit increase |
Platform | Affymetrix [> 2500000] (imputed) |
CNV | N |
Mapped trait | glomerular filtration rate |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005208 |
Study accession | GCST001923 |
PubMed ID | 23535967 |
Journal | J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23535967 |
Study | Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. |
Disease/Trait | Glomerular filtration rate |
Initial sample | 9,049 European ancestry individuals |
Replication sample | |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-C |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.000000006 |
Pvalue mlog | 8.22184874961635 |
P value text | (3-measure model) |
Or beta | 1.1 |
%95 Ci | [0.73-1.47] unit increase |
Platform | Affymetrix [> 2500000] (imputed) |
CNV | N |
Mapped trait | glomerular filtration rate |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005208 |
Study accession | GCST001923 |
PubMed ID | 23535967 |
Journal | J Hum Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23535967 |
Study | Using multiple measures for quantitative trait association analyses: application to estimated glomerular filtration rate. |
Disease/Trait | Glomerular filtration rate |
Initial sample | 9,049 European ancestry individuals |
Replication sample | |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-C |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.23 |
P value | 0.000000002 |
Pvalue mlog | 8.69897000433601 |
P value text | (6-measure model) |
Or beta | 1.1 |
%95 Ci | [0.75-1.45] unit increase |
Platform | Affymetrix [> 2500000] (imputed) |
CNV | N |
Mapped trait | glomerular filtration rate |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005208 |
Study accession | GCST001923 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-T |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.78 |
P value | 5E-481 |
Pvalue mlog | 480.301029995663 |
P value text | (N-acetylornithine) |
Or beta | 0.221 |
%95 Ci | [0.21-0.23] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-T |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.78 |
P value | 8E-123 |
Pvalue mlog | 122.096910013008 |
P value text | (X-11787) |
Or beta | 0.04 |
%95 Ci | [0.036-0.044] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |
PubMed ID | 24816252 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24816252 |
Study | An atlas of genetic influences on human blood metabolites. |
Disease/Trait | Blood metabolite levels |
Initial sample | 7,824 European ancestry individuals |
Replication sample | NA |
Region | 2p13.1 |
Chromosome id | chr2 |
Chromosome position | 73673773 |
Reported gene | NAT8 |
Mapped gene | ALMS1P |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 200420 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs10206899-T |
SNPs | rs10206899 |
Merged | 0 |
SNP id current | 10206899 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.78 |
P value | 0.00000000000002 |
Pvalue mlog | 13.698970004336 |
P value text | (X-13477) |
Or beta | 0.025 |
%95 Ci | [0.019-0.031] unit increase |
Platform | Affymetrix, Illumina [2100000] (imputed) |
CNV | N |
Mapped trait | blood metabolite measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005664 |
Study accession | GCST002443 |