SNP Report

Basic Info

Name	rs734551 dbSNP Ensembl
Location	chr1:231858687 - 231858687(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.487819
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000366632, ENST00000366633, ENST00000602713); intron_variant(ENST00000366636, ENST00000366637, ENST00000422590, ENST00000427560, ENST00000439617, ENST00000535983, ENST00000537876, ENST00000620189, ENST00000622252, ENST00000628350); NMD_transcript_variant(ENST00000422590); non_coding_transcript_variant(ENST00000427560)
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
Thomson, P. A.,2005(a)			Single-Marker Analysis: allele frequency, for BP, P-value = ...... Single-Marker Analysis: allele frequency, for BP, P-value = 0.085 More...	No significant association was observed. No significant association was observed.	Negative
Xiao, Y.,2011	A/G	A	Allelic permutated P-value = 0.882, genotypic permutated P-...... Allelic permutated P-value = 0.882, genotypic permutated P-value = 0.431 More...	No significant association was observed in BD. No significant association was observed in BD.	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 rs734551 (count: 4) View in gBrowse (chr1:231848014..231863117 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Functional Annotation	r²[population]
rs12757857	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs7549664	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs12139880	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.954[CHB]; 0.976[CHD]; 0.953[JPT]
rs12139117	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.954[CHB]; 0.952[JPT]

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 = 0.89	No significant association was observed.	Negative

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