BDgene

SNP Report

Basic Info
Name rs1630250 dbSNP Ensembl
Location chr1:231528457 - 231528457(1)
Variant Alleles G/C
Ancestral Allele C
Minor Allele G
Minor Allele Frequence 0.45647
Functional Annotation non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript non_coding_transcript_exon_variant(ENST00000416221, ENST00000425412, ENST00000454631); non_coding_transcript_variant(ENST00000416221, ENST00000425412, ENST00000454631); upstream_gene_variant(ENST00000366639, ENST00000413309, ENST00000440665, ENST00000450783, ENST00000476913, ENST00000602567, ENST00000602634, ENST00000602825, ENST00000602885, ENST00000602956, ENST00000602962)
No. of Studies 3 (Positive: 0; Negative: 3; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Palo, O. M., 2007 G/C P-value = 0.632 in all patients, P-value = 0.572 in males, P...... P-value = 0.632 in all patients, P-value = 0.572 in males, P-value = 0.104 in females, with bipolar spectrum disorder More... Negative
Okuda, A.,2010 C/G chi square test: genotype P-value = 0.493, allele P-value = ...... chi square test: genotype P-value = 0.493, allele P-value = 0.892 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 = 0.79 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 rs1630250 (count: 39) View in gBrowse (chr1:231430873..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: 39)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Thomson, P. A.,2005(a) Single-Marker Analysis:allele frequency, for SZ, P-value = 0.95 No significant association was observed. Negative

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Okuda, A.,2010 chi square test:genotype P-value = 0.356, allele P-value = 0.165 No significant association was observed. Negative