SNP Report

Basic Info

Name	rs613993 dbSNP Ensembl
Location	chr18:12028581 - 12028581(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.398762
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000587619, ENST00000588752); intron_variant(ENST00000269159, ENST00000586230, ENST00000588927, ENST00000589238, ENST00000590107, ENST00000590138); NMD_transcript_variant(ENST00000586230, ENST00000590107, ENST00000590138); non_coding_transcript_exon_variant(ENST00000588167); non_coding_transcript_variant(ENST00000588167); upstream_gene_variant(ENST00000589374)
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
Ohnishi, T., 2007	A/G		Fisher's exact test, allelic P-value = 0.523, genotypic P-va...... Fisher's exact test, allelic P-value = 0.523, genotypic P-value = 0.348 More...		Negative
Bloch, P. J., 2010	A/G	G	genotype test P-value = 0.737, allele test P-value = 0.699 genotype test P-value = 0.737, allele test P-value = 0.699		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 rs613993 (count: 34) View in gBrowse (chr18:12026504..12066146 )

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: 34)

rs_ID	Functional Annotation	r²[population]
rs583965	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.886[CHB]; 1.0[JPT]
rs4797612	downstream_gene_variant	0.811[CHD]; 0.807[JPT]
rs4797615	downstream_gene_variant; upstream_gene_variant	0.81[CHD]; 0.807[JPT]
rs949233	downstream_gene_variant; upstream_gene_variant	0.807[JPT]
rs2849418	downstream_gene_variant; upstream_gene_variant	0.807[JPT]
rs656193	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.914[CHD]; 0.946[JPT]
rs2849414	downstream_gene_variant; upstream_gene_variant	0.807[JPT]
rs2851922	downstream_gene_variant; upstream_gene_variant	0.807[JPT]
rs2849416	downstream_gene_variant; upstream_gene_variant	0.811[CHD]; 0.807[JPT]
rs597094	downstream_gene_variant; upstream_gene_variant	0.832[TSI]; 0.945[CHB]; 0.918[CHD]; 0.946[JPT]
rs9959561	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.807[JPT]
rs2849404	downstream_gene_variant	0.811[CHD]; 0.807[JPT]
rs6505710	upstream_gene_variant	0.808[CHD]; 0.807[JPT]
rs7236715	upstream_gene_variant	0.811[CHD]; 0.807[JPT]
rs2851915	upstream_gene_variant	0.846[CHB]; 0.862[CHD]; 0.897[JPT]
rs2849393	upstream_gene_variant	0.807[JPT]
rs4643402	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.807[JPT]
rs1662612	downstream_gene_variant; upstream_gene_variant	0.832[TSI]; 1.0[CHB]; 0.918[CHD]; 0.946[JPT]
rs8083240	downstream_gene_variant	0.808[CHD]; 0.807[JPT]
rs2006690	downstream_gene_variant; upstream_gene_variant	0.807[JPT]
rs655840	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.946[JPT]
rs7237502	downstream_gene_variant	0.807[JPT]
rs949229	downstream_gene_variant	0.811[CHD]; 0.807[JPT]
rs11876652	downstream_gene_variant	0.807[JPT]
rs609588	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.945[JPT]
rs9959517	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.811[CHD]; 0.807[JPT]
rs2851900	downstream_gene_variant; upstream_gene_variant	0.802[JPT]
rs2849415	downstream_gene_variant; upstream_gene_variant	0.8[JPT]
rs1250171	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.831[TSI]; 0.945[CHB]; 1.0[CHD]; 0.945[JPT]
rs596081	downstream_gene_variant; upstream_gene_variant	0.832[TSI]; 1.0[CHB]; 0.918[CHD]; 0.946[JPT]
rs9959774	non_coding_transcript_exon_variant; non_coding_transcript_variant	0.811[CHD]; 0.807[JPT]
rs2851901	upstream_gene_variant	0.802[JPT]
rs2075826	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant	0.805[TSI]; 0.945[CHB]; 1.0[CHD]; 1.0[JPT]
rs2851903	downstream_gene_variant	0.805[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 = 0.54, genotypic P-value = 0.628		Negative

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