SNP Detail For rs73078593
1.Mapping Information
Human SNP ID rs73078593
Human chromosome chr20
Human SNP position 12310875
Pig chromosome chr17
Pig SNP position 23720765
2.Annotation Information
PubMed ID26252872
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/26252872
StudyVariations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aå°¾1-42 Level.
Disease/TraitCognitive decline rate in late mild cognitive impairment
Initial sample472 European ancestry cases, 47 cases
Replication sampleNA
Region20p12.1
Chromosome idchr20
Chromosome position12310875
Reported geneBTBD3, SPTLC3
Mapped geneLOC105372531 - LOC105372534
Upstream gene id105372531
Downstream gene id105372534
SNP gene ids
Upstream gene distance351932
Downstream gene distance63261
SNP risk allelers73078593-C
SNPsrs73078593
Merged
SNP id current73078593
Contextintron_variant
Intergenic1
Allele frequency0.03
P value0.000001
Pvalue mlog6
P value text(EA)
Or beta0.2829
%95 Ci[0.17-0.4] unit decrease
PlatformIllumina [~ 9000000] (imputed)
CNVN
Mapped traitcognitive impairment, cognitive decline measurement
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0100543, http://www.ebi.ac.uk/efo/EFO_0007710
Study accessionGCST003075
PubMed ID26252872
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/26252872
StudyVariations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aå°¾1-42 Level.
Disease/TraitCognitive decline rate in late mild cognitive impairment
Initial sample472 European ancestry cases, 47 cases
Replication sampleNA
Region20p12.1
Chromosome idchr20
Chromosome position12310875
Reported geneBTBD3, SPTLC3
Mapped geneLOC105372531 - LOC105372534
Upstream gene id105372531
Downstream gene id105372534
SNP gene ids
Upstream gene distance351932
Downstream gene distance63261
SNP risk allelers73078593-C
SNPsrs73078593
Merged
SNP id current73078593
Contextintron_variant
Intergenic1
Allele frequency0.03
P value0.000001
Pvalue mlog6
P value text
Or beta0.278
%95 Ci[0.17-0.39] unit decrease
PlatformIllumina [~ 9000000] (imputed)
CNVN
Mapped traitcognitive impairment, cognitive decline measurement
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0100543, http://www.ebi.ac.uk/efo/EFO_0007710
Study accessionGCST003075