SNP Report

Basic Info

Name	rs594235 dbSNP Ensembl
Location	chr18:12033034 - 12033034(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.381989
Functional Annotation	downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000269159, ENST00000586230, ENST00000588167, ENST00000588752, ENST00000588927, ENST00000589238, ENST00000589374, ENST00000590107, ENST00000590138); upstream_gene_variant(ENST00000587619)
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
Ohnishi, T., 2007	T/C		Fisher's exact test, allelic P-value = 0.591, genotypic P-va...... Fisher's exact test, allelic P-value = 0.591, genotypic P-value = 0.51 More...		Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
IMPA2	inositol(myo)-1(or 4)-monophosphatase 2	18p11.2	4(2/2/0)

SNPs in LD with rs594235 (count: 36) View in gBrowse (chr18:12026504..12074486 )

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: 36)

rs_ID	Functional Annotation	r²[population]
rs596081	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs11872729	downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.802[CHD]
rs9959774	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.886[CHD]; 0.853[JPT]
rs2851901	upstream_gene_variant	0.849[JPT]
rs7237502	downstream_gene_variant	0.853[JPT]
rs11876652	downstream_gene_variant	0.853[JPT]
rs4797612	downstream_gene_variant	0.886[CHD]; 0.853[JPT]
rs2849404	downstream_gene_variant	0.886[CHD]; 0.853[JPT]
rs655840	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs2075826	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.945[CHB]; 0.918[CHD]; 0.946[JPT]
rs949229	downstream_gene_variant	0.886[CHD]; 0.853[JPT]
rs2849414	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs2851915	upstream_gene_variant	0.846[CHB]; 0.944[CHD]; 0.947[JPT]
rs597094	downstream_gene_variant; upstream_gene_variant	0.945[CHB]; 1.0[CHD]; 1.0[JPT]
rs2851903	downstream_gene_variant	0.851[JPT]
rs4797615	downstream_gene_variant; upstream_gene_variant	0.885[CHD]; 0.853[JPT]
rs8083240	downstream_gene_variant	0.884[CHD]; 0.853[JPT]
rs2851922	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs4643402	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.857[CHD]; 0.853[JPT]
rs583965	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.886[CHB]; 0.945[JPT]
rs2849393	upstream_gene_variant	0.853[JPT]
rs2006690	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs9959561	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.855[CHD]; 0.853[JPT]
rs2851900	downstream_gene_variant; upstream_gene_variant	0.849[JPT]
rs9959517	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.886[CHD]; 0.853[JPT]
rs2849415	downstream_gene_variant; upstream_gene_variant	0.847[JPT]
rs656193	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.97[CHD]; 1.0[JPT]
rs7236715	upstream_gene_variant	0.886[CHD]; 0.853[JPT]
rs609588	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[JPT]
rs1662612	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs1250171	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.945[CHB]; 0.918[CHD]; 0.895[JPT]
rs6505710	upstream_gene_variant	0.884[CHD]; 0.853[JPT]
rs2849420	downstream_gene_variant; upstream_gene_variant	0.83[JPT]
rs949233	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs2849418	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs2849416	downstream_gene_variant; upstream_gene_variant	0.886[CHD]; 0.853[JPT]

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

Reference	Statistical Result	Description	Result Category
Ohnishi, T., 2007	Fisher's exact test, allelic P-value = 0.67, genotypic P-value = 0.475		Negative

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