BDgene

SNP Report

Basic Info
Name rs3924999 dbSNP Ensembl
Location chr8:32595840 - 32595840(1)
Variant Alleles G/A
Ancestral Allele G
Minor Allele A
Minor Allele Frequence 0.385184
Functional Annotation missense_variant.
Polyphen Annotation: benign(ENST00000287842, ENST00000356819, ENST00000405005, ENST00000518104, ENST00000519301, ENST00000520407, ENST00000521670, ENST00000523079, ENST00000523534, ENST00000631040)
SIFT Annotation: tolerated(ENST00000631040); deleterious(ENST00000287842, ENST00000356819, ENST00000405005, ENST00000518104, ENST00000519301, ENST00000520407, ENST00000521670, ENST00000523079, ENST00000523534)
Consequence to Transcript missense_variant(ENST00000287842, ENST00000356819, ENST00000405005, ENST00000518104, ENST00000519301, ENST00000520407, ENST00000521670, ENST00000523079, ENST00000523534, ENST00000631040)
No. of Studies 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Moon, E.,2011 A/G For BD: Recessive model: Yates Chi-Square/P-value = 0.45/0.5...... For BD: Recessive model: Yates Chi-Square/P-value = 0.45/0.50; Dominant model: Fisher exact P-value = 0.05/0.82 More... No significant association was observed. No significant association was observed. Negative
Perlis, 2008 Mean X2=3.21, P-value = 0.41 in gene-based associ...... Mean X2=3.21, P-value = 0.41 in gene-based association tests More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NRG1 neuregulin 1 8p12 15(10/5/0)

SNPs in LD with rs3924999 (count: 0) View in gBrowse (chr8:32595840..32595840 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Moon, E.,2011 For SZ:0.45/0.50 model:Pearson Chi-Square/P-value = 0.6/0.43, Yates Chi-Square/P-value = 10.28/0.25, Pearson Chi-Square/P-value = 10.55/0.21;Dominant model:Pearson Chi-Square/P-value = 0.08/0.77, Yates Chi-Square/P-value = 0.13/0.71, Pearson Chi-Square/P-value = 0.2/0.65 No significant association was observed. Negative

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