SNP Report

Basic Info

Name	rs1170191 dbSNP Ensembl
Location	chr13:42101357 - 42101357(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.248203
Functional Annotation	intron_variant.
Consequence to Transcript	intron_variant(ENST00000261491, ENST00000337343, ENST00000379274)
No. of Studies	7 (Positive: 1; Negative: 6; 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
Baum, A. E., 2008 (b)		G	Random effects P-value = 0.043; DerSimonian-Laird (random e...... Random effects P-value = 0.043; DerSimonian-Laird (random effects) OR (95% CI)=1.26 (1.01-1.61) More...		Negative
Takata, A.,2011(a)	C/T		Fisher's exact test: allele P-value = 0.319, genotype P-valu...... Fisher's exact test: allele P-value = 0.319, genotype P-value = 0.443 More...	No significant association was observed in BD. No significant association was observed in BD.	Negative
Squassina, A.,2009		C	Alelle association: P-value = 0.312permutation P-value = 0.5...... Alelle association: P-value = 0.312permutation P-value = 0.551 More...	No significant association was observed No significant association was observed	Negative
Zeng, Z.,2011		C	Allelic association: P-value = 0.179, permutated P-value = 0...... Allelic association: P-value = 0.179, permutated P-value = 0.81 for BPD; P-value = 0.292, permutated P-value = 0.944 for BPDI More...	No significant association was observed in BD. No significant association was observed in BD.	Negative
Baum, A. E., 2008 (a)		C	P-value = 0.003 when genotyped individually in the test samp...... P-value = 0.003 when genotyped individually in the test sample (NIMH); P-value = 0.0003 when individually genotyped in the Replication sample (German); P-value = 3.7E-08 in the combined dataset. OR (95% CI)=1.42 (1.23-1.65) More...	significant at the P < 0.05 level in both samples. significant at the P < 0.05 level in both samples.	Positive
Yosifova, A.,2009	A/G		Allelic association: P-value = 0.91 Allelic association: P-value = 0.91	No significant association was observed No significant association was observed	Negative
Ollila, H. M.,2009	G/A		FBAT: P-value = 0.141857 FBAT: P-value = 0.141857	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)
DGKH	diacylglycerol kinase, eta	13q13.3	6(3/3/0)

SNPs in LD with rs1170191 (count: 23) View in gBrowse (chr13:42082705..42201303 )

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: 23)

rs_ID	Functional Annotation	r²[population]
rs12865430	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.822[CHB]
rs1177637	intron_variant	1.0[CEU]; 1.0[TSI]; 0.955[CHB]; 0.953[CHD]; 1.0[JPT]
rs12584544	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.82[CHD]
rs10492441	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.816[CHB]
rs685951	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs1750017	intron_variant	0.858[CHB]
rs682573	intron_variant; upstream_gene_variant	0.864[CHB]; 0.859[CHD]
rs670676	intron_variant	1.0[CEU]; 1.0[TSI]; 0.955[CHB]; 0.906[CHD]; 0.86[JPT]
rs1170187	intron_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 1.0[CHD]; 1.0[JPT]
rs2253650	intron_variant	0.813[TSI]
rs10492439	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.826[CHB]
rs1170190	intron_variant	1.0[CEU]; 1.0[CHB]; 1.0[JPT]
rs12870816	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.804[CHB]
rs2122247	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.818[CHD]
rs1170158	intron_variant	1.0[CEU]; 1.0[TSI]; 0.955[CHB]; 0.929[CHD]; 0.86[JPT]
rs12583267	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.8[JPT]
rs1170173	intron_variant	1.0[CEU]; 0.902[CHB]; 1.0[JPT]
rs12585267	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.82[CHD]
rs17645393	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.817[CHB]
rs1170188	intron_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 0.976[CHD]; 1.0[JPT]
rs1170178	intron_variant	0.861[CHB]
rs12585075	intron_variant; upstream_gene_variant	0.864[CHB]; 0.884[CHD]
rs12870823	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.813[CHB]

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

Reference	Statistical Result	Description	Result Category
Zeng, Z.,2011	Allelic association:P-value = 0.052, permutated P-value = 0.385 for SCZ	No significant association was observed after permutation.	Negative

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

Reference	Statistical Result	Description	Result Category
Zeng, Z.,2011	Allelic association:P-value > 0.05 for MDD.	No significant association was observed after permutation.	Negative