SNP Detail For rs2839186
1.Mapping Information
Human SNP ID rs2839186
Human chromosome chr21
Human SNP position 46270154
Pig chromosome chr13
Pig SNP position 218475881
2.Annotation Information
PubMed ID23666240
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23666240
StudyIdentification of nine new susceptibility loci for testicular cancer, including variants near DAZL and PRDM14.
Disease/TraitTesticular germ cell tumor
Initial sample986 European ancestry cases, 4,946 European ancestry controls
Replication sample1,064 European ancestry cases, 10,082 European ancestry controls
Region21q22.3
Chromosome idchr21
Chromosome position46270154
Reported geneMCM3AP
Mapped geneMCM3AP
Upstream gene id
Downstream gene id
SNP gene ids8888
Upstream gene distance
Downstream gene distance
SNP risk allelers2839186-T
SNPsrs2839186
Merged0
SNP id current2839186
Contextintron_variant
Intergenic0
Allele frequency0.46
P value0.000000001
Pvalue mlog9
P value text
Or beta1.26
%95 Ci[1.15-1.38]
PlatformIllumina [307291]
CNVN
Mapped traittesticular carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005088
Study accessionGCST002022
PubMed ID25877299
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25877299
StudyTwo new loci and gene sets related to sex determination and cancer progression are associated with susceptibility to testicular germ cell tumor.
Disease/TraitTesticular germ cell tumor
Initial sample1,326 European ancestry cases, 6,687 European ancestry controls
Replication sample710 European ancestry case-parent triads, 289 European ancestry cases, 290 European ancestry controls
Region21q22.3
Chromosome idchr21
Chromosome position46270154
Reported geneMCM3AP
Mapped geneMCM3AP
Upstream gene id
Downstream gene id
SNP gene ids8888
Upstream gene distance
Downstream gene distance
SNP risk allelers2839186-T
SNPsrs2839186
Merged0
SNP id current2839186
Contextintron_variant
Intergenic0
Allele frequency0.443
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta1.23
%95 Ci[NR]
PlatformIllumina [610240]
CNVN
Mapped traitTesticular Germ Cell Tumor
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1000566
Study accessionGCST002855