BDgene

SNP Report

Basic Info
Name rs766288 dbSNP Ensembl
Location chr1:231557942 - 231557942(1)
Variant Alleles G/T
Ancestral Allele G
Minor Allele T
Minor Allele Frequence 0.417133
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000602825); intron_variant(ENST00000366639, ENST00000413309, ENST00000475168, ENST00000602567, ENST00000602634, ENST00000602885, ENST00000602956, ENST00000602962); NMD_transcript_variant(ENST00000602567, ENST00000602634, ENST00000602885, ENST00000602956, ENST00000602962); non_coding_transcript_variant(ENST00000475168)
No. of Studies 4 (Positive: 1; Negative: 3; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 4)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Ram Murthy, A., 2012 BPAD patients: P-value=0.074, P-value=0.004 for females, P-v...... BPAD patients: P-value=0.074, P-value=0.004 for females, P-value=0.0902 for males; BPAD&SCZ: P-value=0.336, P-value=0.004 for females, P-value=0.248 for males More... The most significant association was found for rs766288 with...... The most significant association was found for rs766288 with BPAD females. More... Positive
Schosser, A., 2010 A/C genotypic/allelic test P-value = 0.15/0.06 genotypic/allelic test P-value = 0.15/0.06 No significant genotypic or allelic association was observed...... No significant genotypic or allelic association was observed. More... Negative
Okuda, A.,2010 C/T chi square test: genotype P-value = 0.0572, allele P-value =...... chi square test: genotype P-value = 0.0572, allele P-value = 0.778 More... No significant association was observed in BD. No significant association was observed in BD. Negative
Thomson, P. A.,2005(a) Single-Marker Analysis: allele frequency, for BP, P-value = ...... Single-Marker Analysis: allele frequency, for BP, P-value = 0.71 More... No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
TSNAX translin-associated factor X 1q42.2 4(3/1/0)
DISC1 disrupted in schizophrenia 1 1q42.1 18(10/7/1)

SNPs in LD with rs766288 (count: 11) View in gBrowse (chr1:231520672..231594375 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 11)


Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Thomson, P. A.,2005(a) Single-Marker Analysis:allele frequency, for SZ, P-value = 0.72 No significant association was observed. Negative
Ram Murthy, A., 2012 SZ patients: P-value=0.906, P-value=0.03 for females, P-value=0.105 for males; BPAD&SCZ: P-value=0.336, P-value=0.004 for females, P-value=0.248 for males The most significant association was found for combined female cases of BPAD or SCZ. Moderate associations were also observed in females for rs766288 (SCZ, P=0.03) Positive

Overlap with MDD from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Okuda, A.,2010 chi square test:genotype P-value = 0.0742, allele P-value = 0.0727 No significant association was observed. Negative
Schosser, A., 2010 genotypic/allelic test P-value: 0.27/0.15 No significant genotypic or allelic association was observed. Negative