SNP Detail For rs1014137
1.Mapping Information
Human SNP ID rs1014137
Human chromosome chr7
Human SNP position 31584132
Pig chromosome chr18
Pig SNP position 45712656
2.Annotation Information
PubMed ID24578207
JournalStroke
Linkwww.ncbi.nlm.nih.gov/pubmed/24578207
StudyGenome-wide genotyping demonstrates a polygenic risk score associated with white matter hyperintensity volume in CADASIL.
Disease/TraitWhite matter hyperintensity volume in cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Initial sample466 European ancestry individuals
Replication sampleNA
Region7p14.3
Chromosome idchr7
Chromosome position31584132
Reported geneNR
Mapped geneCCDC129
Upstream gene id
Downstream gene id
SNP gene ids223075
Upstream gene distance
Downstream gene distance
SNP risk allelers1014137-C
SNPsrs1014137
Merged0
SNP id current1014137
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000008
Pvalue mlog5.09691001300805
P value text
Or beta0.0241
%95 Ci[NR] unit increase
PlatformAffymetrix [583499]
CNVN
Mapped traitCADASIL, white matter hyperintensity measurement
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_136, http://www.ebi.ac.uk/efo/EFO_0005665
Study accessionGCST002377