SNP Report

Basic Info

Name	rs737865 dbSNP Ensembl
Location	chr22:19942598 - 19942598(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	G
Minor Allele Frequence	0.226637
Functional Annotation	intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000361682, ENST00000403184, ENST00000403710, ENST00000407537, ENST00000467943); non_coding_transcript_variant(ENST00000467943); upstream_gene_variant(ENST00000334363, ENST00000400519, ENST00000400521, ENST00000400525, ENST00000474308, ENST00000496729, ENST00000542719, LRG_417t1)
No. of Studies	5 (Positive: 2; Negative: 3; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 5)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Shifman, S., 2004		P-value = 0.38 in the total control, P-value = 0.54 in the n...... P-value = 0.38 in the total control, P-value = 0.54 in the new control of male, P-value = 0.020 in the total control, P-value = 0.049 in the new control of female, P-value = 0.049 in the total control, P-value = 0.14 in the new control of all; OR (95% CI)=1.04 (0.79-1.38) of male, OR (95% CI)=1.34 (1.01-1.77) of female More...	the current association between COMT and bipolar disorder is...... the current association between COMT and bipolar disorder is relatively modest More...	Positive
Prata, D. P., 2006		no P-value no P-value	A chi-square analysis showed no genotype-wise or allele-wise...... A chi-square analysis showed no genotype-wise or allele-wise association for any individual SNP. More...	Positive
Burdick, K. E., 2007	C/T	chi-square P-value = 0.956, X²=0.09 chi-square P-value = 0.956, X²=0.09	there was no significant association at SNP rs737865 there was no significant association at SNP rs737865	Negative
Funke, B.,2005	T/C	Allelic association: for BP, P-value = 0.638, trend P-value ...... Allelic association: for BP, P-value = 0.638, trend P-value = 0.634, OR (95%CI)=1.09(0.76, 1.56); for affective disorder, P-value = 0.56, trend P-value = 0.556, OR (95%CI)=1.1(0.80, 1.50); for all affects, P-value = 0.315, trend P-value = 0.321, OR (95%CI)=1.11(0.90, 1.37) More...	No significant association was observed in BP. No significant association was observed in BP.	Negative
Massat, I.,2011	A/G	For BD: allele, X²=0.24, P-value = 0.62, genotype...... For BD: allele, X²=0.24, P-value = 0.62, genotype, X²=0.74, P-value = 0.69; eraly onset: allele, X²=0.31, P-value = 0.57, genotype, X²=0.44, P-value = 0.8 More...	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
COMT	catechol-O-methyltransferase	22q11.21	28(14/14/0)
TXNRD2	thioredoxin reductase 2	22q11.21	Mapped by Literature SNP

SNPs in LD with rs737865 (count: 7) View in gBrowse (chr22:19933855..19945525 )

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: 7)

rs_ID	Functional Annotation	r²[population]
rs737866	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs2020917	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.946[TSI]
rs5748484	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs9606189	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs8140265	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.946[TSI]
rs8185002	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]
rs9605031	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.946[TSI]

Overlap with SZ from cross-disorder studies (count: 2)

Reference	Statistical Result	Description	Result Category
Shifman, S., 2004	OR (95% CI)=1.19 (1.03-1.37) of males, OR (95% CI)=1.27 (1.04-1.54) of females	previously found to be associated with schizophrenia	Positive
Funke, B.,2005	Allelic association:for SCZ, P-value = 0.511, trend P-value = 0.518, OR (95%CI)=1.09(0.84, 1.41);for SCZ+SA, P-value = 0.438, trend P-value = 0.448, OR (95%CI)=1.1(0.87, 1.39)	No significant association was observed in SZ.	Negative

Overlap with MDD from cross-disorder studies (count: 2)

Reference	Statistical Result	Description	Result Category
Massat, I.,2011	For MD:allele, X²=0.85, P-value = 0.35, genotype, X²=1.25, P-value = 0.52;eraly onset:allele, X²=3.95, P-value = 0.04, genotype, X²=4.3, P-value = 0.12	No significant association was observed.	Negative
Funke, B.,2005	Allelic association:for MDD, P-value = 0.688, trend P-value = 0.689, OR (95%CI)=1.12(0.64, 1.95)	No association was observed in MDD.	Negative