SNP Detail For rs4804416
1.Mapping Information
Human SNP ID rs4804416
Human chromosome chr19
Human SNP position 7223837
Pig chromosome chr2
Pig SNP position 72322740
2.Annotation Information
PubMed ID22493691
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/22493691
StudyNovel associations for hypothyroidism include known autoimmune risk loci.
Disease/TraitHypothyroidism
Initial sample3,736 European ancestry cases, 35,546 European ancestry controls
Replication sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position7223837
Reported geneINSR
Mapped geneINSR
Upstream gene id
Downstream gene id
SNP gene ids3643
Upstream gene distance
Downstream gene distance
SNP risk allelers4804416-G
SNPsrs4804416
Merged0
SNP id current4804416
Contextintron_variant
Intergenic0
Allele frequency0.423
P value0.000005
Pvalue mlog5.30102999566398
P value text
Or beta1.125
%95 Ci[1.07-1.18]
PlatformIllumina [870065]
CNVN
Mapped traithypothyroidism
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004705
Study accessionGCST001474
PubMed ID23408906
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23408906
StudyA meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Disease/TraitThyroid hormone levels
Initial sampleup 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 sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position7223837
Reported geneINSR
Mapped geneINSR
Upstream gene id
Downstream gene id
SNP gene ids3643
Upstream gene distance
Downstream gene distance
SNP risk allelers4804416-T
SNPsrs4804416
Merged0
SNP id current4804416
Contextintron_variant
Intergenic0
Allele frequency0.569
P value0.0000000003
Pvalue mlog9.52287874528033
P value text(TSH)
Or beta0.057
%95 Ci[0.039-0.075] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitthyroid stimulating hormone measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004748
Study accessionGCST001856
PubMed ID23408906
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23408906
StudyA meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Disease/TraitThyroid hormone levels
Initial sampleup 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 sampleNA
Region19p13.2
Chromosome idchr19
Chromosome position7223837
Reported geneINSR
Mapped geneINSR
Upstream gene id
Downstream gene id
SNP gene ids3643
Upstream gene distance
Downstream gene distance
SNP risk allelers4804416-T
SNPsrs4804416
Merged0
SNP id current4804416
Contextintron_variant
Intergenic0
Allele frequency0.569
P value0.000002
Pvalue mlog5.69897000433601
P value text(TSH - Females)
Or beta0.058
%95 Ci[0.034-0.082] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitthyroid stimulating hormone measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004748
Study accessionGCST001856