SNP Detail For rs6001930
1.Mapping Information
Human SNP ID rs6001930
Human chromosome chr22
Human SNP position 40480230
Pig chromosome chr5
Pig SNP position 5153482
2.Annotation Information
PubMed ID23535729
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23535729
StudyLarge-scale genotyping identifies 41 new loci associated with breast cancer risk.
Disease/TraitBreast cancer
Initial sample10,052 European ancestry cases, 12,575 European ancestry controls
Replication sample45,290 European ancestry cases, 41,880 European ancestry controls
Region22q13.1
Chromosome idchr22
Chromosome position40480230
Reported geneMKL1
Mapped geneMKL1
Upstream gene id
Downstream gene id
SNP gene ids57591
Upstream gene distance
Downstream gene distance
SNP risk allelers6001930-C
SNPsrs6001930
Merged0
SNP id current6001930
Contextintron_variant
Intergenic0
Allele frequency0.11
P value9E-19
Pvalue mlog18.0457574905606
P value text
Or beta1.12
%95 Ci[1.09-1.16]
PlatformAffymetrix, Illumina [~ 2600000] (imputed)
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001937
PubMed ID23535733
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23535733
StudyGenome-wide association studies identify four ER negative-specific breast cancer risk loci.
Disease/TraitBreast cancer
Initial sample4,193 European ancestry cases, 35,194 European ancestry controls
Replication sample6,514 European ancestry cases, 41,455 European ancestry controls
Region22q13.1
Chromosome idchr22
Chromosome position40480230
Reported geneMKL1
Mapped geneMKL1
Upstream gene id
Downstream gene id
SNP gene ids57591
Upstream gene distance
Downstream gene distance
SNP risk allelers6001930-C
SNPsrs6001930
Merged0
SNP id current6001930
Contextintron_variant
Intergenic0
Allele frequency0.107
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.14
%95 Ci[1.08-1.20]
PlatformIllumina [NR]
CNVN
Mapped traitbreast carcinoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000305
Study accessionGCST001930