SNP Report

Basic Info

Name	rs2438146 dbSNP Ensembl
Location	chr4:94474237 - 94474237(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.277157
Functional Annotation	intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000317968, ENST00000318007, ENST00000380180, ENST00000437932, ENST00000503974, ENST00000508216, ENST00000509333, ENST00000511767, ENST00000514743, ENST00000514830, ENST00000542407, ENST00000615540, ENST00000627587); NMD_transcript_variant(ENST00000627587); non_coding_transcript_variant(ENST00000509333, ENST00000511767, ENST00000514830)
No. of Studies	2 (Positive: 0; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Zhao, T.,2009	G/T		Allelic association: among patients and controls, P-value = ...... Allelic association: among patients and controls, P-value = 0.23, OR (95% CI)=1.18(0.90-1.53); among patients with bipolar disorder I and controls, P-value = 0.24, OR (95% CI)=1.18(0.90-1.55). Genotypic Association: among patients and controls, P-value = 0.35; among patients with bipolar disorder I and controls, P-value = 0.33 More...	No significant association was observed No significant association was observed	Negative
Yosifova, A.,2009	C/T		Allelic association: P-value = 0.22 Allelic association: P-value = 0.22	No significant association was observed No significant association was observed	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
PDLIM5	PDZ and LIM domain 5	4q22	5(4/1/0)

SNPs in LD with rs2438146 (count: 9) View in gBrowse (chr4:94439195..94490992 )

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]
rs6812165		1.0[CEU]; 0.924[CHB]; 0.919[JPT]
rs2510762	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs17378777	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 0.933[TSI]; 1.0[CHB]; 0.9[CHD]; 1.0[JPT]
rs2510763	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]; 0.955[TSI]; 1.0[CHB]; 0.966[CHD]; 1.0[JPT]
rs2510800	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.807[JPT]
rs774982	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.876[CEU]
rs7697295		0.845[CEU]; 0.851[TSI]
rs2433327	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.878[CEU]; 0.8[TSI]
rs9990976	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.809[CEU]

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

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