SNP Report

Basic Info

Name	rs165599 dbSNP Ensembl
Location	chr22:19969258 - 19969258(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.490815
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000361682); downstream_gene_variant(ENST00000207636, ENST00000263207, ENST00000401994, ENST00000403184, ENST00000403710, ENST00000406259, ENST00000406520, ENST00000406522, ENST00000407537, ENST00000412786, ENST00000428707, ENST00000449653, ENST00000480792, ENST00000493893, ENST00000495096)
No. of Studies	7 (Positive: 5; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 7)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Massat, I.,2011	A/G		For BD: allele, X²=0.06, P-value = 0.8, genotype,...... For BD: allele, X²=0.06, P-value = 0.8, genotype, X²=0.06, P-value = 0.96; eraly onset: allele, X²=0.06, P-value = 0.79, genotype, X²=0.07, P-value = 0.96 More...	No significant association was observed. No significant association was observed.	Negative
Ancin, I.,2011(b)		G	X² -tests: allele G frequency, P-value = 0.02, P-...... X² -tests: allele G frequency, P-value = 0.02, P-value > 0.05after Bonferroni correction; a post hoc analysis, A-G: OR 1.46 (0.94-2.28) and G-G : OR 1.84 (1.01 - 3.38), P-value = 0.03 More...	Significant associations were found. Significant associations were found.	Positive
Shifman, S., 2004			P-value = 0.048 in the total control, P-value = 0.029 in the...... P-value = 0.048 in the total control, P-value = 0.029 in the new control of male, P-value = 0.0057 in the total control, P-value = 0.080 in the new control of female, P-value = 0.0015 in the total control, P-value = 0.0098 in the new control of all; OR (95% CI)=1.06 (0.80-1.40) of male, OR (95% CI)=1.23 (0.93-1.63) of female More...	the current association between COMT and bipolar disorder is...... the current association between COMT and bipolar disorder is relatively modest, and the most significant association of a singular SNP is rs165599 More...	Positive
Burdick, K. E., 2007	A/G		chi-square P-value = 0.044, X²=6.24; allelic P-v...... chi-square P-value = 0.044, X²=6.24; allelic P-value = 0.02, OR=2.41 More...	the G allele of SNP rs165599 was significantly overrepresent...... the G allele of SNP rs165599 was significantly overrepresented in the bipolar group compared with the healthy volunteers More...	Positive
Hukic, D. S.,2013	G/A		BP1 CMS vs. ABD controls: P-value = 0.014,empirical p-value ...... BP1 CMS vs. ABD controls: P-value = 0.014,empirical p-value =0.017,empirical p-value2 = 0.16,OR[95%CI] = 1.34[1.1â€“1.7] More...	Significant association was observed. Significant association was observed.	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
Funke, B.,2005	A/G		Allelic association: for BP, P-value = 0.088, trend P-value ...... Allelic association: for BP, P-value = 0.088, trend P-value = 0.095, OR (95%CI)=1.35(0.96, 1.91); for affective disorder, P-value = 0.039, trend P-value = 0.043, OR (95%CI)=1.38(1.02, 1.87); for all affects, P-value = 0.035, trend P-value = 0.04, OR (95%CI)=1.25(1.02, 1.53) More...	No significant association was observed in BP. No significant association was observed in BP.	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ARVCF	armadillo repeat gene deleted in velocardiofacial syndrome	22q11.21	Mapped by Literature SNP
COMT	catechol-O-methyltransferase	22q11.21	28(14/14/0)

SNPs in LD with rs165599 (count: 0) View in gBrowse (chr22:19969258..19969258 )

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

Reference	Statistical Result	Description	Result Category
Shifman, S., 2004	OR (95% CI)=1.13 (0.99-1.30) of males, OR (95% CI)=1.47 (1.22-1.77) of females	previously found to be associated with schizophrenia	Positive
Funke, B.,2005	Allelic association:for SCZ, P-value = 0.221, trend P-value = 0.24, OR (95%CI)=1.17(0.91, 1.51);for SCZ+SA, P-value = 0.16, trend P-value = 0.175, OR (95%CI)=1.18(0.94, 1.49)	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=3.58, P-value = 0.05, genotype, X²=4.35, P-value = 0.1;eraly onset:allele, X²=2.56, P-value = 0.11, genotype, X²=3.25, P-value = 0.2	No significant association was observed.	Negative
Funke, B.,2005	Allelic association:for MDD, P-value = 0.169, trend P-value = 0.184, OR (95%CI)=1.46(0.85, 2.51)	No association was observed in MDD.	Negative