BDgene

SNP Report

Basic Info
Name rs1480380 dbSNP Ensembl
Location chrCHR_HSCHR6_MHC_SSTO_CTG1:33036169 - 33036169(1)
Variant Alleles C/T
Ancestral Allele T
Minor Allele T
Minor Allele Frequence 0.0826677
Functional Annotation downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000374843, ENST00000395303, ENST00000395305, ENST00000422832, ENST00000456800, ENST00000464392, ENST00000475627, ENST00000477541, ENST00000480785); intron_variant(ENST00000429234); upstream_gene_variant(ENST00000418107, ENST00000498020, ENST00000433630, ENST00000434337, ENST00000437285, ENST00000451753, ENST00000452330, ENST00000466040, ENST00000477135, ENST00000479036, ENST00000479386, ENST00000490859, ENST00000435056, ENST00000395312, ENST00000413617, ENST00000480557, ENST00000416297, ENST00000422196, ENST00000451148, ENST00000452703, ENST00000453490, ENST00000460128, ENST00000466446, ENST00000475284, ENST00000481354, ENST00000493659, ENST00000430099, ENST00000418759, ENST00000424822, ENST00000466737, ENST00000420931, ENST00000439054, ENST00000441171, ENST00000443447, ENST00000456486, ENST00000465136, ENST00000467732, ENST00000470656, ENST00000472231, ENST00000487750, ENST00000449679, ENST00000440078, ENST00000447454, ENST00000461570, ENST00000420299, ENST00000426176, ENST00000432991, ENST00000440717, ENST00000452615, ENST00000475844, ENST00000485999, ENST00000489001, ENST00000494230, ENST00000495512, ENST00000415927, ENST00000428420, ENST00000452407, ENST00000487546, ENST00000416806, ENST00000419041, ENST00000419231, ENST00000441375, ENST00000457285, ENST00000462225, ENST00000469705, ENST00000472833, ENST00000487786, ENST00000489879, ENST00000448590, ENST00000450897, ENST00000456428, ENST00000482267, ENST00000435503, ENST00000450601, ENST00000452434, ENST00000454298, ENST00000458066, ENST00000466043, ENST00000469049, ENST00000472934, ENST00000479292, ENST00000491978, ENST00000415090, ENST00000383231, ENST00000428864, ENST00000463532, ENST00000383227, ENST00000383228, ENST00000383230, ENST00000412394, ENST00000418042, ENST00000461059, ENST00000466370, ENST00000477208, ENST00000486785, ENST00000498081, ENST00000449417, ENST00000412948, ENST00000439344, ENST00000476119)
No. of Studies 1 (Positive: 1; Negative: 0; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Andreassen OA, 2013 Conditional FDR; SCZ loci given BD: FDR=0.01 for SCZ and BD Conditional FDR; SCZ loci given BD: FDR=0.01 for SCZ and BD To estimate the number of independent loci, we 'pruned' the ...... To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.32. More... Positive

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
HLA-DMA major histocompatibility complex, class II, DM alpha 6p21.3 Mapped by Literature SNP
HLA-DMB major histocompatibility complex, class II, DM beta 6p21.3 Mapped by Literature SNP


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Andreassen OA, 2013 Conditional FDR; SCZ loci given BD: P-value=0.0000106, FDR=0.077, FDR=0.01 for SCZ and BD To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.32. Positive

Overlap with MDD from cross-disorder studies (count: 0)