SNP Detail For rs82625
1.Mapping Information
Human SNP ID rs82625
Human chromosome chr10
Human SNP position 113996371
Pig chromosome chr14
Pig SNP position 135465407
2.Annotation Information
PubMed ID22388998
JournalAm J Hematol
Linkwww.ncbi.nlm.nih.gov/pubmed/22388998
StudyGenome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
Disease/TraitGaucher disease severity
Initial sample139 Ashkenazi Jewish cases
Replication sampleNA
Region10q25.3
Chromosome idchr10
Chromosome position113996371
Reported geneADRB1
Mapped geneNHLRC2 - LOC105378492
Upstream gene id374354
Downstream gene id105378492
SNP gene ids
Upstream gene distance83865
Downstream gene distance11820
SNP risk allelers82625-?
SNPsrs82625
Merged0
SNP id current82625
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta
%95 Ci
PlatformIllumina [540902]
CNVN
Mapped traitGaucher disease
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_355
Study accessionGCST001380