SNP Report

Basic Info

Name	rs7612463 dbSNP Ensembl
Location	chr3:23294959 - 23294959(1)
Variant Alleles	C/A
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	0.179513
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000335798, ENST00000396703, ENST00000425792, ENST00000452894); NMD_transcript_variant(ENST00000335798)
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
Kajio, Y., 2014	A/C		P-value=0.92, Pcorrected=1, OR=0.99 for BD in screening stag...... P-value=0.92, Pcorrected=1, OR=0.99 for BD in screening stage More...	No association analysis was found. No association analysis was found.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
UBE2E2	ubiquitin-conjugating enzyme E2E 2	3p24.2	1(0/1/0)

SNPs in LD with rs7612463 (count: 28) View in gBrowse (chr3:23149341..23485980 )

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: 28)

rs_ID	Functional Annotation	r²[population]
rs10510536	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.894[CHB]; 0.913[CHD]; 1.0[JPT]
rs6792370	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.945[CHB]; 0.956[CHD]; 1.0[JPT]
rs13314285		0.893[CHB]; 0.888[JPT]
rs7628372	intron_variant; NMD_transcript_variant	0.945[CHB]
rs13094957	intron_variant; NMD_transcript_variant	0.819[CHB]
rs11926494	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.94[CHB]; 1.0[JPT]
rs2359765	intron_variant; NMD_transcript_variant	1.0[CHB]
rs6762856		0.888[JPT]
rs9812056		0.888[JPT]
rs7627525	intron_variant; NMD_transcript_variant	0.944[CHB]; 0.869[CHD]
rs2173058	intron_variant; NMD_transcript_variant	0.945[CHB]
rs1495130	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.894[CHB]; 1.0[JPT]
rs17012829	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.894[CHB]; 0.913[CHD]; 1.0[JPT]
rs4402953		0.82[JPT]
rs2359766	intron_variant; NMD_transcript_variant	1.0[CHB]
rs7613185	intron_variant; NMD_transcript_variant	0.945[CHB]
rs17013266	intron_variant; NMD_transcript_variant	1.0[CHB]
rs9831921		0.894[CHB]; 0.888[JPT]
rs2017065	intron_variant; NMD_transcript_variant	1.0[CHB]; 0.828[CHD]; 0.888[JPT]
rs7641437	intron_variant; NMD_transcript_variant	0.89[CHB]
rs17012800	downstream_gene_variant	0.894[CHB]; 1.0[JPT]
rs11927173		0.894[CHB]; 1.0[JPT]
rs9863600		0.861[JPT]
rs6780569		0.888[JPT]
rs1908475	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.945[CHB]; 1.0[JPT]
rs7627380	intron_variant; NMD_transcript_variant	1.0[CHB]; 0.956[CHD]; 1.0[JPT]
rs1496653	intron_variant; NMD_transcript_variant	0.945[CHB]; 0.829[CHD]
rs9830468		0.888[JPT]

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

Reference	Statistical Result	Description	Result Category
Kajio, Y., 2014	P-value=0.021, Pcorrected=0.68, OR=1.23 for SZ in screening stage.	In the SCZ sample, only one SNP in UBE2E2 (rs7612463) showed a nominal significant association (Puncorrected < 0.05).	Positive

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