SNP Detail For rs969413
1.Mapping Information
Human SNP ID rs969413
Human chromosome chr17
Human SNP position 81222014
Pig chromosome chr12
Pig SNP position 1445155
2.Annotation Information
PubMed ID26154020
JournalNeurobiol Aging
Linkwww.ncbi.nlm.nih.gov/pubmed/26154020
StudyA genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.
Disease/TraitFrontotemporal dementia
Initial sample530 European ancestry cases, 926 European ancestry controls
Replication sampleNA
Region17q25.3
Chromosome idchr17;17;17;17;17;17;17
Chromosome position81218646;81222014;81239762;81199662;81218630;81228529;81204174
Reported geneCEP131, ENTHD2, C17orf89
Mapped geneCEP131; CEP131; C17orf89; CEP131; CEP131; ENTHD2; CEP131
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers9319617-?; rs969413-?; rs2255166-?; rs906175-?; rs2725391-?; rs1048775-?; rs2659030-?
SNPsrs9319617; rs969413; rs2255166; rs906175; rs2725391; rs1048775; rs2659030
Merged
SNP id current
Contextintron_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_exon_variant; intron_variant; 3_prime_UTR_variant; intron_variant
Intergenic
Allele frequencyNR
P value0.0000008
Pvalue mlog6.09691001300805
P value text
Or beta1.49
%95 Ci[1.27-1.72]
PlatformIllumina [2292247] (imputed)
CNVN
Mapped traitFrontotemporal dementia
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_282
Study accessionGCST002960
PubMed ID26154020
JournalNeurobiol Aging
Linkwww.ncbi.nlm.nih.gov/pubmed/26154020
StudyA genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.
Disease/TraitFrontotemporal dementia
Initial sample530 European ancestry cases, 926 European ancestry controls
Replication sampleNA
Region17q25.3
Chromosome idchr17;17;17;17;17;17;17
Chromosome position81218646;81222014;81239762;81199662;81218630;81228529;81204174
Reported geneENTHD2, C17orf89, CEP131
Mapped geneCEP131; CEP131; C17orf89; CEP131; CEP131; ENTHD2; CEP131
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers9319617-T; rs969413-A; rs2255166-C; rs906175-T; rs2725391-T; rs1048775-C; rs2659030-A
SNPsrs9319617; rs969413; rs2255166; rs906175; rs2725391; rs1048775; rs2659030
Merged
SNP id current
Contextintron_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_exon_variant; intron_variant; 3_prime_UTR_variant; intron_variant
Intergenic
Allele frequency0.43
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta1.45
%95 Ci[1.23-1.69]
PlatformIllumina [2292247] (imputed)
CNVN
Mapped traitFrontotemporal dementia
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_282
Study accessionGCST002960
PubMed ID26154020
JournalNeurobiol Aging
Linkwww.ncbi.nlm.nih.gov/pubmed/26154020
StudyA genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia.
Disease/TraitFrontotemporal dementia
Initial sample530 European ancestry cases, 926 European ancestry controls
Replication sampleNA
Region17q25.3
Chromosome idchr17;17;17;17;17;17;17;17;17;17;17;17
Chromosome position81218646;81204396;81220205;81222014;81221221;81239762;81199662;81244914;81218630;81228529;81217926;81204174
Reported geneCEP131, ENTHD2, C17orf89
Mapped geneCEP131; CEP131; CEP131; CEP131; CEP131; C17orf89; CEP131; SLC38A10; CEP131; ENTHD2; CEP131; CEP131
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers9319617-?; rs9912789-?; rs12939525-?; rs969413-?; rs8073077-?; rs2255166-?; rs906175-?; rs2659005-?; rs2725391-?; rs1048775-?; rs9896850-?; rs2659030-?
SNPsrs9319617; rs9912789; rs12939525; rs969413; rs8073077; rs2255166; rs906175; rs2659005; rs2725391; rs1048775; rs9896850; rs2659030
Merged
SNP id current
Contextintron_variant; intron_variant; intron_variant; intron_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_exon_variant; downstream_gene_variant; intron_variant; 3_prime_UTR_variant; intron_variant; intron_variant
Intergenic
Allele frequencyNR
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta1.44
%95 Ci[1.22-1.69]
PlatformIllumina [2292247] (imputed)
CNVN
Mapped traitFrontotemporal dementia
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_282
Study accessionGCST002960