SNP Detail For rs2151280
1.Mapping Information
Human SNP ID rs2151280
Human chromosome chr9
Human SNP position 22034720
Pig chromosome chr1
Pig SNP position 223938477
2.Annotation Information
PubMed ID24403052
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24403052
StudyGermline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.
Disease/TraitBasal cell carcinoma
Initial sample4,208 European ancestry cases, 109,408 European ancestry controls
Replication sampleup to 1,480 European ancestry cases, up to 4,610 European ancestry controls
Region9p21.3
Chromosome idchr9
Chromosome position22034720
Reported geneCDKN2A, CDKN2B
Mapped geneCDKN2B-AS1
Upstream gene id
Downstream gene id
SNP gene ids100048912
Upstream gene distance
Downstream gene distance
SNP risk allelers2151280-G
SNPsrs2151280
Merged0
SNP id current2151280
Contextintron_variant
Intergenic0
Allele frequency
P value0.0000000003
Pvalue mlog9.52287874528033
P value text
Or beta1.2
%95 Ci[1.14-1.27]
PlatformIllumina [38500000] (imputed)
CNVN
Mapped traitbasal cell carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004193
Study accessionGCST002331
PubMed ID25855136
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25855136
StudyNew basal cell carcinoma susceptibility loci.
Disease/TraitBasal cell carcinoma
Initial sample4,572 European ancestry cases, 266,358 European ancestry controls
Replication sampleup to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls
Region9p21.3
Chromosome idchr9
Chromosome position22034720
Reported geneCDKN2A, CDKN2B
Mapped geneCDKN2B-AS1
Upstream gene id
Downstream gene id
SNP gene ids100048912
Upstream gene distance
Downstream gene distance
SNP risk allelers2151280-G
SNPsrs2151280
Merged0
SNP id current2151280
Contextintron_variant
Intergenic0
Allele frequency0.532
P value0.00000000009
Pvalue mlog10.0457574905606
P value text
Or beta1.19
%95 Ci[NR]
PlatformIllumina [24988228] (imputed)
CNVN
Mapped traitbasal cell carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004193
Study accessionGCST002842