Human SNP ID | rs2151280 |
---|---|
Human chromosome | chr9 |
Human SNP position | 22034720 |
Pig chromosome | chr1 |
Pig SNP position | 223938477 |
PubMed ID | 24403052 |
---|---|
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/24403052 |
Study | Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. |
Disease/Trait | Basal cell carcinoma |
Initial sample | 4,208 European ancestry cases, 109,408 European ancestry controls |
Replication sample | up to 1,480 European ancestry cases, up to 4,610 European ancestry controls |
Region | 9p21.3 |
Chromosome id | chr9 |
Chromosome position | 22034720 |
Reported gene | CDKN2A, CDKN2B |
Mapped gene | CDKN2B-AS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 100048912 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2151280-G |
SNPs | rs2151280 |
Merged | 0 |
SNP id current | 2151280 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | |
P value | 0.0000000003 |
Pvalue mlog | 9.52287874528033 |
P value text | |
Or beta | 1.2 |
%95 Ci | [1.14-1.27] |
Platform | Illumina [38500000] (imputed) |
CNV | N |
Mapped trait | basal cell carcinoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004193 |
Study accession | GCST002331 |
PubMed ID | 25855136 |
Journal | Nat Commun |
Link | www.ncbi.nlm.nih.gov/pubmed/25855136 |
Study | New basal cell carcinoma susceptibility loci. |
Disease/Trait | Basal cell carcinoma |
Initial sample | 4,572 European ancestry cases, 266,358 European ancestry controls |
Replication sample | up to 956 European ancestry cases, up to 4,214 European ancestry controls, 526 cases, 528 controls |
Region | 9p21.3 |
Chromosome id | chr9 |
Chromosome position | 22034720 |
Reported gene | CDKN2A, CDKN2B |
Mapped gene | CDKN2B-AS1 |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 100048912 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs2151280-G |
SNPs | rs2151280 |
Merged | 0 |
SNP id current | 2151280 |
Context | intron_variant |
Intergenic | 0 |
Allele frequency | 0.532 |
P value | 0.00000000009 |
Pvalue mlog | 10.0457574905606 |
P value text | |
Or beta | 1.19 |
%95 Ci | [NR] |
Platform | Illumina [24988228] (imputed) |
CNV | N |
Mapped trait | basal cell carcinoma |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004193 |
Study accession | GCST002842 |