SNP Report

Basic Info

Name	rs208293 dbSNP Ensembl
Location	chr12:121162377 - 121162377(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.469249
Functional Annotation	3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000535928); intron_variant(ENST00000261826, ENST00000328963, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716, ENST00000545434); NMD_transcript_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000535928, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716, ENST00000545434); non_coding_transcript_exon_variant(ENST00000539695); non_coding_transcript_variant(ENST00000539695)
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
McQuillin, A.,2009			Allelic Association: X²=3.346, P-value = 0.067 Allelic Association: X²=3.346, P-value = 0.067	No significant association was observed No significant association was observed	Negative
Green, E. K.,2009			Pearson chi-squared analysis: Between Bipolar I Disorder and...... Pearson chi-squared analysis: Between Bipolar I Disorder and Control: allele: P-value = 0.49, genotype: P-value = 0.78(OR=1.05, 95%CI=0.91-1.12); Between Unipolar Disorder and Control: allele: P-value = 0.86, genotype: P-value = 0.81(OR=0.99, 95%CI=0.87-1.13); Between Mood Disorder(BP and UP combined) and Control: P-value = 0.82, genotype: P-value = 0.91(OR=1.01, 95%CI=0.90-1.14) More...	No significant allelic or genotypic Significant association ...... No significant allelic or genotypic Significant association was observed in bipolar cases compared with controls More...	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
P2RX7	purinergic receptor P2X, ligand gated ion channel, 7	12q24	9(2/7/0)

SNPs in LD with rs208293 (count: 13) View in gBrowse (chr12:121092645..121162377 )

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]
rs2516210	upstream_gene_variant	0.915[TSI]
rs169631	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs208277		0.8[CEU]; 0.943[TSI]
rs651221	downstream_gene_variant	0.913[TSI]
rs208280		0.8[CEU]; 0.942[TSI]
rs1180012	downstream_gene_variant	0.943[TSI]
rs1796412	upstream_gene_variant	0.915[TSI]
rs1796421	upstream_gene_variant	0.915[TSI]
rs1180002	upstream_gene_variant	0.915[TSI]
rs656612	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1.0[CEU]
rs500930	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	0.838[CEU]; 0.918[TSI]
rs570984		0.942[TSI]
rs208279		0.83[TSI]

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

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