SNP Detail For rs11705555
1.Mapping Information
Human SNP ID rs11705555
Human chromosome chr22
Human SNP position 27810924
Pig chromosome chr14
Pig SNP position 47999294
2.Annotation Information
PubMed ID26301497
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26301497
StudyGenetic association analyses highlight biological pathways underlying mitral valve prolapse.
Disease/TraitMitral valve prolapse
Initial sample1,442 European ancestry cases, 2,439 European ancestry controls
Replication sample1,422 European ancestry cases, 6,779 European ancestry controls
Region22q12.1
Chromosome idchr22
Chromosome position27810924
Reported geneMN1, PITPNB
Mapped geneMN1 - PITPNB
Upstream gene id4330
Downstream gene id23760
SNP gene ids
Upstream gene distance9426
Downstream gene distance40745
SNP risk allelers11705555-C
SNPsrs11705555
Merged
SNP id current11705555
Contextregulatory_region_variant
Intergenic1
Allele frequency0.26
P value0.00000001
Pvalue mlog8
P value text
Or beta1.23
%95 Ci[1.15-1.33]
PlatformAffymetrix, Illumina [~ 4800000] (imputed)
CNVN
Mapped traitMitral valve prolapse
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0001634
Study accessionGCST003094