SNP Report

Basic Info

Name	rs1800497 dbSNP Ensembl
Location	chr11:113400106 - 113400106(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.325679
Functional Annotation	downstream_gene_variant; missense_variant. Polyphen Annotation: benign(ENST00000303941) SIFT Annotation: tolerated(ENST00000303941)
Consequence to Transcript	downstream_gene_variant(ENST00000542948); missense_variant(ENST00000303941)
No. of Studies	2 (Positive: 1; Negative: 1; 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
Wang, T. Y., 2013	A1/A2		P-value=0.39, X²=4.11; P-value=0.39, X^{2 P-value=0.39, X²=4.11; P-value=0.39, X²=4.13 for male; P-value=0.48, X²=3.51 for female; DRD2 A1/A1: P-value=0.003, OR=4.25 for all BP-I, P-value=0.002, OR=7.33 for male BP-I, P-value=0.34, OR=2.25 for female BP-I, P-value<0.001, OR=5.49 for all BP-II, P-value=0.001, OR=8.56 for male BP-II, P-value=0.15, OR=3.33 for female BP-II; DRD2 A1/A2: P-value=0.93, OR=1.02 for all BP-I, P-value=0.38, OR=1.42 for male BP-I, P-value=0.36, OR=0.66 for female BP-I; P-value=0.10, OR=1.56 for all BP-II, P-value=0.16, OR=1.70 for male BP-II, P-value=0.82, OR=1.11 for female BP-II More...}	There was no significant difference in the distribution of t...... There was no significant difference in the distribution of the DRD2 Taq-IA polymorphisms between three groups. It showed a significant association between the DRD2/ANKK1 Taq-IA polymorphisms and patients with BP-I and an association between DRD2 and BP-II. A gender-specific association of the DRD2 polymorphisms and the risk for BP-I and BP-II was also found in the regression model. More...	Positive
Lee, S. Y.,2010			Genotype distributions: for BP-I, X²=0.639, P-val...... Genotype distributions: for BP-I, X²=0.639, P-value = 0.727; for BP-II, X²=5.482, P-value = 0.065.Logistic regression analysis: DRD2 Taq-I A1/A1, for BP-I, OR=0.635, 95%CI=0.278-1.448, P-value = 0.28; for BP-II, OR=0.471, 95%CI=0.214-1.035, P-value = 0.061; DRD2 Taq-I A1/A2, for BP-I, OR=0.876, 95%CI=0.466-1.644, P-value = 0.679; for BP-II, OR=1.304, 95%CI=0.755-2.252, P-value = 0.341 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ANKK1	ankyrin repeat and kinase domain containing 1	11q23.2	Mapped by Literature SNP
DRD2	dopamine receptor D2	11q22-q23	28(8/20/0)

SNPs in LD with rs1800497 (count: 45) View in gBrowse (chr11:113379003..113434481 )

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: 45)

rs_ID	Functional Annotation	r²[population]
rs6278	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[CHD]; 0.908[JPT]
rs7103679	intron_variant; non_coding_transcript_variant	0.859[JPT]
rs2734842	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.83[CHB]
rs7945132	intron_variant; upstream_gene_variant	0.816[JPT]
rs2471854	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.826[CHD]; 0.859[JPT]
rs2734841	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.826[CHB]
rs4938012	intron_variant; upstream_gene_variant	0.816[JPT]
rs2242591	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.829[JPT]
rs2734836	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.859[JPT]
rs2242592	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.83[CHB]; 0.907[CHD]
rs877138	downstream_gene_variant; upstream_gene_variant	0.8[CHD]; 0.816[JPT]
rs6276	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.83[CHB]
rs6279	3_prime_UTR_variant; downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.83[CHB]
rs10891546	intron_variant; NMD_transcript_variant	0.883[CHD]; 0.816[JPT]
rs1076560	downstream_gene_variant; intron_variant	0.955[CHB]; 0.864[CHD]; 0.905[JPT]
rs7350522	intron_variant; non_coding_transcript_variant	0.812[JPT]
rs1079594	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.955[CHB]; 0.908[JPT]
rs2471857	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.826[CHD]; 0.859[JPT]
rs1124491	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.908[JPT]
rs1079596	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.859[JPT]
rs7123797	intron_variant; upstream_gene_variant	0.816[JPT]
rs1003641	downstream_gene_variant; upstream_gene_variant	0.83[CHB]; 0.908[CHD]
rs7118900	3_prime_UTR_variant; missense_variant; NMD_transcript_variant	0.954[CHB]; 0.976[CHD]; 0.953[JPT]
rs1079597	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.955[CHB]; 0.826[CHD]; 0.859[JPT]
rs1125394	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.859[JPT]
rs17115439	synonymous_variant; upstream_gene_variant	0.883[CHD]; 0.816[JPT]
rs1079727	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.955[CHB]; 0.822[CHD]; 0.859[JPT]
rs4601821	intron_variant	0.811[JPT]
rs6275	downstream_gene_variant; synonymous_variant	0.908[CHD]
rs3897584	intron_variant	0.8[CHD]; 0.816[JPT]
rs2283265	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.955[CHB]; 0.905[JPT]
rs11214598	intron_variant; NMD_transcript_variant	0.883[CHD]
rs2587550	downstream_gene_variant; upstream_gene_variant	0.83[CHB]; 0.907[CHD]
rs2471851	intron_variant; non_coding_transcript_variant	0.859[JPT]
rs2075654	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.955[CHB]; 0.859[JPT]
rs1079595	downstream_gene_variant; intron_variant; non_coding_transcript_variant	1.0[CHB]; 0.908[JPT]
rs4938013	NMD_transcript_variant; synonymous_variant	0.883[CHD]; 0.816[JPT]
rs11214602	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.81[CHB]
rs4938015	intron_variant; NMD_transcript_variant	0.883[CHD]; 0.816[JPT]
rs1124493	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.83[CHB]; 0.907[CHD]
rs1125393	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.911[CHB]; 0.826[CHD]; 0.859[JPT]
rs11214601	downstream_gene_variant; upstream_gene_variant	1.0[CHB]; 0.857[JPT]
rs2859545	downstream_gene_variant; upstream_gene_variant	0.823[CHB]
rs1124492	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.804[CHD]
rs4938014	intron_variant; NMD_transcript_variant	0.8[CHD]

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

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