SNP Detail For rs16826658
1.Mapping Information
Human SNP ID rs16826658
Human chromosome chr1
Human SNP position 22159378
Pig chromosome chr6
Pig SNP position 74180753
2.Annotation Information
PubMed ID20601957
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20601957
StudyA genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese.
Disease/TraitEndometriosis
Initial sample1,423 Japanese ancestry cases, 1,318 Japanese ancestry controls
Replication sample484 Japanese ancestry cases, 3,974 Japanese ancestry controls
Region1p36.12
Chromosome idchr1
Chromosome position22159378
Reported geneWNT4
Mapped geneLOC105376845 - LOC105376850
Upstream gene id105376845
Downstream gene id105376850
SNP gene ids
Upstream gene distance1993
Downstream gene distance4006
SNP risk allelers16826658-G
SNPsrs16826658
Merged0
SNP id current16826658
Contextintergenic_variant
Intergenic1
Allele frequency0.523
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.2
%95 Ci[1.11-1.29]
PlatformIllumina [460945]
CNVN
Mapped traitendometriosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001065
Study accessionGCST000721
PubMed ID23472165
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/23472165
StudyGenome-wide association study link novel loci to endometriosis.
Disease/TraitEndometriosis
Initial sample1,514 European ancestry casses, 12,660 European ancestry controls
Replication sample505 European ancestry cases, 1,811 European ancestry controls
Region1p36.12
Chromosome idchr1;1;1;1;1
Chromosome position22096228;22164231;22113027;22123994;22159378
Reported geneWNT4
Mapped geneCDC42 - WNT4; LOC105376850; CDC42 - WNT4; WNT4; LOC105376845 - LOC105376850
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers10917151-A; rs7521902-A; rs4654783-T; rs2235529-T; rs16826658-G
SNPsrs10917151; rs7521902; rs4654783; rs2235529; rs16826658
Merged0
SNP id current
Contextupstream_gene_variant; intergenic_variant; downstream_gene_variant; intron_variant; intergenic_variant
Intergenic
Allele frequency0.134
P value0.0000008
Pvalue mlog6.09691001300805
P value text
Or beta1.25
%95 Ci[NR]
PlatformIllumina [580699]
CNVN
Mapped traitendometriosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001065
Study accessionGCST001894