BDgene

SNP Report

Basic Info
Name rs138781 dbSNP Ensembl
Location chr22:35316621 - 35316621(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.461861
Functional Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript intron_variant(ENST00000382034, ENST00000395736, ENST00000404284, ENST00000411850, ENST00000424387, ENST00000425375, ENST00000439512, ENST00000443206, ENST00000447733, ENST00000449058, ENST00000449508, ENST00000456128, ENST00000465529, ENST00000487670, ENST00000608674, ENST00000608749); NMD_transcript_variant(ENST00000395736, ENST00000404284, ENST00000424387, ENST00000439512, ENST00000449508); non_coding_transcript_variant(ENST00000465529, ENST00000487670)
No. of Studies 1 (Positive: 1; Negative: 0; 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
Potash, J. B., 2008 G/A Family-based P-value = 0.047 for all BPAD subjects, family-b...... Family-based P-value = 0.047 for all BPAD subjects, family-based P-value = 0.013 for BPAD subjects with psychotic symptoms, family-based P-value = 0.0067 (3-marker sliding window with indicated marker first of the three), family-based P-value = 0.0033 (3-marker sliding window with indicated marker first of the three using only those BPAD subjects with psychotic symptoms).Case-control P-value = 0.13 for all BPAD subjects, case-control P-value = 0.14 for BPAD subjects with psychotic symptoms, case-control P-value = 0.056 (3-marker sliding window with indicated marker first of the three), case-control P-value = 0.15 (3-marker sliding window with indicated marker first of the three using only those BPAD subjects with psychotic symptoms). More... The strongest signal in the family-based analysis emerged fr...... The strongest signal in the family-based analysis emerged from the 11 SNP HMG2L1/TOM1 haploblock. More... Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
TOM1 target of myb1 (chicken) 22q13.1 1(1/0/0)

SNPs in LD with rs138781 (count: 0) View in gBrowse (chr22:35316621..35316621 )

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

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