Human SNP ID | rs724016 |
---|---|
Human chromosome | chr3 |
Human SNP position | 141386728 |
Pig chromosome | chr13 |
Pig SNP position | 89971960 |
PubMed ID | 18193045 |
---|---|
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18193045 |
Study | Common variants in the GDF5-UQCC region are associated with variation in human height. |
Disease/Trait | Height |
Initial sample | 1,084 European ancestry cases, 1,287 European ancestry controls, 4,298 European individuals |
Replication sample | 23,684 European ancestry individuals, 3,860 African American individuals |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | ZBTB38 |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-G |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.36 |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | |
Or beta | 0.61 |
%95 Ci | [NR] cm increase |
Platform | Affymetrix, Illumina [~ 2261000] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000136 |
PubMed ID | 20881960 |
Journal | Nature |
Link | www.ncbi.nlm.nih.gov/pubmed/20881960 |
Study | Hundreds of variants clustered in genomic loci and biological pathways affect human height. |
Disease/Trait | Height |
Initial sample | 133,653 European ancestry individuals |
Replication sample | 50,074 European ancestry individuals |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | ZBTB38 |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-A |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.56 |
P value | 3E-86 |
Pvalue mlog | 85.5228787452803 |
P value text | |
Or beta | 0.07 |
%95 Ci | [NR] unit decrease |
Platform | Affymetrix, Illumina [2834208] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000817 |
PubMed ID | 18391950 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/18391950 |
Study | Identification of ten loci associated with height highlights new biological pathways in human growth. |
Disease/Trait | Height |
Initial sample | 15,821 European ancestry individuals |
Replication sample | Up to 17,801 European ancestry individuals |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | ZBTB38 |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-G |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.48 |
P value | 8E-22 |
Pvalue mlog | 21.096910013008 |
P value text | |
Or beta | 0.37 |
%95 Ci | [0.29-0.45] cm increase |
Platform | Affymetrix, Illumina [2260683] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST000176 |
PubMed ID | 26192919 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26192919 |
Study | Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. |
Disease/Trait | Crohn__s disease |
Initial sample | 5,956 European ancestry cases, 14,927 European ancestry controls |
Replication sample | 14,594 European ancestry cases, 26,715 European ancestry controls, 151 Iranian ancestry cases, 342 Iranian ancestry controls, 184 Indian ancestry cases, 990 Indian ancestry controls, 1,690 East Asian ancestry cases, 3,719 East Asian ancestry controls |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | intergenic |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-G |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.4413 |
P value | 0.000003 |
Pvalue mlog | 5.52287874528033 |
P value text | (EA) |
Or beta | 1.0572861 |
%95 Ci | [1.03-1.08] |
Platform | Affymetrix, Illumina [~ 9000000] (imputed) |
CNV | N |
Mapped trait | Crohn__s disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0000384 |
Study accession | GCST003044 |
PubMed ID | 25281659 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25281659 |
Study | A novel common variant in DCST2 is associated with length in early life and height in adulthood. |
Disease/Trait | Infant length |
Initial sample | 28,238 European ancestry individuals |
Replication sample | NA |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | ZBTB38 |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-A |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.453 |
P value | 0.0000004 |
Pvalue mlog | 6.39794000867203 |
P value text | |
Or beta | 0.044 |
%95 Ci | [0.026-0.062] unit decrease |
Platform | Affymetrix, Illumina [2193675] (imputed) |
CNV | N |
Mapped trait | infant body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006785 |
Study accession | GCST002646 |
PubMed ID | 25282103 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25282103 |
Study | Defining the role of common variation in the genomic and biological architecture of adult human height. |
Disease/Trait | Height |
Initial sample | 253,288 European ancestry individuals |
Replication sample | 80,067 European ancestry individuals |
Region | 3q23 |
Chromosome id | chr3 |
Chromosome position | 141386728 |
Reported gene | ZBTB38 |
Mapped gene | ZBTB38 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 253461 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs724016-A |
SNPs | rs724016 |
Merged | 0 |
SNP id current | 724016 |
Context | 5_prime_UTR_variant |
Intergenic | 0 |
Allele frequency | 0.555 |
P value | 3E-158 |
Pvalue mlog | 157.52287874528 |
P value text | |
Or beta | 0.078 |
%95 Ci | [0.072-0.084] unit decrease |
Platform | Affymetrix, Illumina, Perlegen [2550858] (imputed) |
CNV | N |
Mapped trait | body height |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004339 |
Study accession | GCST002647 |