Human SNP ID | rs4804416 |
---|---|
Human chromosome | chr19 |
Human SNP position | 7223837 |
Pig chromosome | chr2 |
Pig SNP position | 72322740 |
PubMed ID | 22493691 |
---|---|
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/22493691 |
Study | Novel associations for hypothyroidism include known autoimmune risk loci. |
Disease/Trait | Hypothyroidism |
Initial sample | 3,736 European ancestry cases, 35,546 European ancestry controls |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 7223837 |
Reported gene | INSR |
Mapped gene | INSR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3643 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4804416-G |
SNPs | rs4804416 |
Merged | 0 |
SNP id current | 4804416 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.423 |
P value | 0.000005 |
Pvalue mlog | 5.30102999566398 |
P value text | |
Or beta | 1.125 |
%95 Ci | [1.07-1.18] |
Platform | Illumina [870065] |
CNV | N |
Mapped trait | hypothyroidism |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004705 |
Study accession | GCST001474 |
PubMed ID | 23408906 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23408906 |
Study | A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. |
Disease/Trait | Thyroid hormone levels |
Initial sample | up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 7223837 |
Reported gene | INSR |
Mapped gene | INSR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3643 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4804416-T |
SNPs | rs4804416 |
Merged | 0 |
SNP id current | 4804416 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.569 |
P value | 0.0000000003 |
Pvalue mlog | 9.52287874528033 |
P value text | (TSH) |
Or beta | 0.057 |
%95 Ci | [0.039-0.075] unit decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | thyroid stimulating hormone measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004748 |
Study accession | GCST001856 |
PubMed ID | 23408906 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/23408906 |
Study | A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. |
Disease/Trait | Thyroid hormone levels |
Initial sample | up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males |
Replication sample | NA |
Region | 19p13.2 |
Chromosome id | chr19 |
Chromosome position | 7223837 |
Reported gene | INSR |
Mapped gene | INSR |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 3643 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs4804416-T |
SNPs | rs4804416 |
Merged | 0 |
SNP id current | 4804416 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.569 |
P value | 0.000002 |
Pvalue mlog | 5.69897000433601 |
P value text | (TSH - Females) |
Or beta | 0.058 |
%95 Ci | [0.034-0.082] unit decrease |
Platform | Affymetrix, Illumina [~ 2500000] (imputed) |
CNV | N |
Mapped trait | thyroid stimulating hormone measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004748 |
Study accession | GCST001856 |