BDgene

SNP Report

Basic Info
Name rs127503 dbSNP Ensembl
Location chr6:108158429 - 108158429(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.42512
Functional Annotation downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000426008); intron_variant(ENST00000440575, ENST00000492070); non_coding_transcript_exon_variant(ENST00000441184); non_coding_transcript_variant(ENST00000441184, ENST00000492070)
No. of Studies 1 (Positive: 0; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Kumar, R. A., 2008 G/A X2=1.66, OR (95% CI)=0.87 (0.71-1.08), P-value = ...... X2=1.66, OR (95% CI)=0.87 (0.71-1.08), P-value = 0.198 for bipolar disorder (I and II combined). X2=1.88, OR (95% CI)=0.86 (0.69-1.07), P-value = 0.170 for bipolar I disorder. X2=0.00, OR (95% CI)=1.01 (0.56-1.82), P-value = 0.972 for bipolar II disorder. More... Negative

SNP related genes (count: 3)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NR2E1 nuclear receptor subfamily 2, group E, member 1 6q21 1(1/0/0)
OSTM1-AS1 OSTM1 antisense RNA 1 6q21 Mapped by Literature SNP
OSTM1 osteopetrosis associated transmembrane protein 1 6q21 Mapped by Literature SNP

SNPs in LD with rs127503 (count: 0) View in gBrowse (chr6:108158429..108158429 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Kumar, R. A., 2008 X2=0.51, OR (95% CI)=0.93 (0.93-1.15), P-value = 0.475 for SZ. No association was detected with schizophrenia. Negative

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