SNP Detail For rs6074578
1.Mapping Information
Human SNP ID rs6074578
Human chromosome chr20
Human SNP position 211156
Pig chromosome chr17
Pig SNP position 39713409
2.Annotation Information
PubMed ID25310821
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/25310821
StudyA genome-wide association study identifies potential susceptibility Loci for hirschsprung disease.
Disease/TraitHirschsprung disease
Initial sample123 Korean ancestry cases, 432 Korean ancestry controls
Replication sampleNA
Region20p13
Chromosome idchr20
Chromosome position211156
Reported geneDEFB129
Mapped geneDEFB128 - DEFB129
Upstream gene id245939
Downstream gene id140881
SNP gene ids
Upstream gene distance21475
Downstream gene distance16102
SNP risk allelers6074578-?
SNPsrs6074578
Merged0
SNP id current6074578
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000004
Pvalue mlog5.39794000867203
P value text(Conditioned on rs2435357, rs1800860, rs7078220 and rs16879552)
Or beta
%95 Ci
PlatformIllumina [757260]
CNVN
Mapped traitHirschsprung disease
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_388
Study accessionGCST002658