BDgene

SNP Report

Basic Info
Name rs4880 dbSNP Ensembl
Location chr6:159692840 - 159692840(1)
Variant Alleles A/G
Ancestral Allele G
Minor Allele G
Minor Allele Frequence 0.410743
Functional Annotation 5_prime_UTR_variant; missense_variant; NMD_transcript_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000337404, ENST00000367054, ENST00000367055, ENST00000444946, ENST00000452684, ENST00000535561, ENST00000538183, ENST00000545162, ENST00000546260)
SIFT Annotation: tolerated - low confidence(ENST00000546260); tolerated(ENST00000337404, ENST00000367054, ENST00000367055, ENST00000444946, ENST00000452684, ENST00000535561, ENST00000538183, ENST00000545162)
Consequence to Transcript 5_prime_UTR_variant(ENST00000401980, ENST00000537657, ENST00000546087); missense_variant(ENST00000337404, ENST00000367054, ENST00000367055, ENST00000444946, ENST00000452684, ENST00000535561, ENST00000538183, ENST00000545162, ENST00000546260); NMD_transcript_variant(ENST00000546260); upstream_gene_variant(ENST00000535459, ENST00000540491, ENST00000541573)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? NO
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Fullerton, J. M.,2010 A Allelic association: X2=2.207, P-value = 0.137, O...... Allelic association: X2=2.207, P-value = 0.137, OR=0.844 for broad model; X2=1.649, P-value = 0.199, OR=0.851 More... No significant association was observed in BD. No significant association was observed in BD. Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
SOD2 superoxide dismutase 2, mitochondrial 6q25 2(1/1/0)

SNPs in LD with rs4880 (count: 0) View in gBrowse (chr6:159692840..159692840 )

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

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