SNP Detail For rs7006527
1.Mapping Information
Human SNP ID rs7006527
Human chromosome chr8
Human SNP position 100012277
Pig chromosome chr4
Pig SNP position 39911628
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
Region8q22.2
Chromosome idchr8
Chromosome position100012277
Reported geneRGS22
Mapped geneRGS22
Upstream gene id
Downstream gene id
SNP gene ids26166
Upstream gene distance
Downstream gene distance
SNP risk allelers7006527-?
SNPsrs7006527
Merged0
SNP id current7006527
Contextintron_variant
Intergenic0
Allele frequency0.86
P value0.0000000000009
Pvalue mlog12.0457574905606
P value text
Or beta1.3
%95 Ci[1.22-1.41]
PlatformIllumina [38500000] (imputed)
CNVN
Mapped traitbasal cell carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004193
Study accessionGCST002331
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
Region8q22.2
Chromosome idchr8
Chromosome position100012277
Reported geneRGS22
Mapped geneRGS22
Upstream gene id
Downstream gene id
SNP gene ids26166
Upstream gene distance
Downstream gene distance
SNP risk allelers7006527-?
SNPsrs7006527
Merged0
SNP id current7006527
Contextintron_variant
Intergenic0
Allele frequency
P value0.0000000009
Pvalue mlog9.04575749056067
P value text
Or beta1.2987
%95 Ci[1.2-1.43]
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
Region8q22.2
Chromosome idchr8
Chromosome position100012277
Reported geneRGS22
Mapped geneRGS22
Upstream gene id
Downstream gene id
SNP gene ids26166
Upstream gene distance
Downstream gene distance
SNP risk allelers7006527-A
SNPsrs7006527
Merged0
SNP id current7006527
Contextintron_variant
Intergenic0
Allele frequency0.858
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta1.32
%95 Ci[NR]
PlatformIllumina [24988228] (imputed)
CNVN
Mapped traitbasal cell carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004193
Study accessionGCST002842