SNP Report

Basic Info

Name	rs1000731 dbSNP Ensembl
Location	chr1:231827745 - 231827745(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.251398
Functional Annotation	intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000366632, ENST00000366633, ENST00000366636, ENST00000366637, ENST00000422590, ENST00000427560, ENST00000439617, ENST00000535983, ENST00000537876, ENST00000602713, ENST00000620189, ENST00000622252, ENST00000628350); NMD_transcript_variant(ENST00000366632, ENST00000422590, ENST00000602713); non_coding_transcript_variant(ENST00000427560)
No. of Studies	4 (Positive: 0; Negative: 4; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 4)

Reference	Allele Change	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 = 0.44 More...	No significant association was observed. No significant association was observed.	Negative
Palo, O. M., 2007	C/T	P-value = 0.475 in all patients, P-value = 0.16 in males, P-...... P-value = 0.475 in all patients, P-value = 0.16 in males, P-value = 0.115 in females, with bipolar spectrum disorder More...		Negative
Schosser, A., 2010	A/G	genotypic/allelic test P-value = 0.28/0.13 genotypic/allelic test P-value = 0.28/0.13	No significant genotypic or allelic association was observed...... No significant genotypic or allelic association was observed. More...	Negative
Maeda, K., 2006		data not shown data not shown	Analysis of the individual markers identified no significant...... Analysis of the individual markers identified no significant association with BP disorder. More...	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 rs1000731 (count: 2) View in gBrowse (chr1:231817632..231827745 )

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

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs11122342		downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant	1.0[CEU]
rs2759330		intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]

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 = 0.96	No significant association was observed.	Negative

Overlap with MDD from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Schosser, A., 2010	genotypic/allelic test P-value: 0.84/0.57	No significant genotypic or allelic association was observed.	Negative