SNP Detail For rs2720460
1.Mapping Information
Human SNP ID rs2720460
Human chromosome chr4
Human SNP position 103133529
Pig chromosome chr8
Pig SNP position 126819128
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
Region4q24
Chromosome idchr4
Chromosome position103133529
Reported geneCENPE
Mapped geneCENPE
Upstream gene id
Downstream gene id
SNP gene ids1062
Upstream gene distance
Downstream gene distance
SNP risk allelers2720460-A
SNPsrs2720460
Merged0
SNP id current2720460
Contextintron_variant
Intergenic0
Allele frequency0.61
P value0.0000000002
Pvalue mlog9.69897000433601
P value text
Or beta1.24
%95 Ci[1.12-1.36]
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
Region4q24
Chromosome idchr4
Chromosome position103133529
Reported geneCENPE
Mapped geneCENPE
Upstream gene id
Downstream gene id
SNP gene ids1062
Upstream gene distance
Downstream gene distance
SNP risk allelers2720460-A
SNPsrs2720460
Merged0
SNP id current2720460
Contextintron_variant
Intergenic0
Allele frequency0.594
P value0.000000000006
Pvalue mlog11.2218487496163
P value text
Or beta1.32
%95 Ci[NR]
PlatformIllumina [610240]
CNVN
Mapped traitTesticular Germ Cell Tumor
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_1000566
Study accessionGCST002855