SNP Detail For rs727428
1.Mapping Information
Human SNP ID rs727428
Human chromosome chr17
Human SNP position 7634474
Pig chromosome chr12
Pig SNP position 55255279
2.Annotation Information
PubMed ID22675492
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/22675492
StudyGenome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
Disease/TraitSex hormone-binding globulin levels
Initial sample1,598 European ancestry female individuals
Replication sampleNA
Region17p13.1
Chromosome idchr17
Chromosome position7634474
Reported geneFXR2, SHBG, SAT2, ATP1B2
Mapped geneSHBG - ATP1B2
Upstream gene id6462
Downstream gene id482
SNP gene ids
Upstream gene distance1091
Downstream gene distance12153
SNP risk allelers727428-T
SNPsrs727428
Merged0
SNP id current727428
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.42
P value0.0000000000000002
Pvalue mlog15.698970004336
P value text
Or beta0.126
%95 Ci[NR] unit decrease
PlatformIllumina [~ 2500000] (imputed)
CNVN
Mapped traitsex hormone globulin binding measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004696
Study accessionGCST001554
PubMed ID22936694
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22936694
StudyGenome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
Disease/TraitAndrogen levels
Initial sample3,225 European ancestry male individuals
Replication sampleNA
Region17p13.1
Chromosome idchr17
Chromosome position7634474
Reported geneSHBG
Mapped geneSHBG - ATP1B2
Upstream gene id6462
Downstream gene id482
SNP gene ids
Upstream gene distance1091
Downstream gene distance12153
SNP risk allelers727428-T
SNPsrs727428
Merged0
SNP id current727428
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.414
P value0.000000000001
Pvalue mlog12
P value text(serum testosterone)
Or beta0.073
%95 Ci[0.053-0.093] unit decrease
PlatformIllumina [642461]
CNVN
Mapped traittestosterone measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004908
Study accessionGCST001653
PubMed ID22936694
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22936694
StudyGenome-wide association study identifies a new locus JMJD1C at 10q21 that may influence serum androgen levels in men.
Disease/TraitAndrogen levels
Initial sample3,225 European ancestry male individuals
Replication sampleNA
Region17p13.1
Chromosome idchr17
Chromosome position7634474
Reported geneSHBG
Mapped geneSHBG - ATP1B2
Upstream gene id6462
Downstream gene id482
SNP gene ids
Upstream gene distance1091
Downstream gene distance12153
SNP risk allelers727428-T
SNPsrs727428
Merged0
SNP id current727428
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.414
P value0.00000000001
Pvalue mlog11
P value text(DHT levels)
Or beta0.103
%95 Ci[0.074-0.132] unit decrease
PlatformIllumina [642461]
CNVN
Mapped traitdihydrotestosterone measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004909
Study accessionGCST001653