SNP Report

Basic Info

Name	rs208294 dbSNP Ensembl
Location	chr12:121162450 - 121162450(1)
Variant Alleles	T/A/C/G
Ancestral Allele	T
Minor Allele	T
Minor Allele Frequence	0.470048
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; intron_variant; missense_variant; NMD_transcript_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant. Polyphen Annotation: probably damaging(ENST00000328963, ENST00000535250, ENST00000541564); benign(ENST00000535600) SIFT Annotation: deleterious(ENST00000535600, ENST00000328963, ENST00000535250, ENST00000541564)
Consequence to Transcript	3_prime_UTR_variant(ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541716, ENST00000545434); downstream_gene_variant(ENST00000535928); intron_variant(ENST00000261826); missense_variant(ENST00000535600, ENST00000328963, ENST00000535250, ENST00000541564); NMD_transcript_variant(ENST00000535600, ENST00000261826, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541716, ENST00000545434, ENST00000535250, ENST00000541564); 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?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
McQuillin, A.,2009			Allelic Association: X²=0.29, P-value = 0.59 Allelic Association: X²=0.29, P-value = 0.59	No significant association was observed No significant association was observed	Negative
Soronen, P.,2011	T/C		For BD, allele, P-value = 0.0999 For BD, allele, P-value = 0.0999	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)
P2RX7	purinergic receptor P2X, ligand gated ion channel, 7	12q24	9(2/7/0)

SNPs in LD with rs208294 (count: 0) View in gBrowse (chr12:121162450..121162450 )

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

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

Reference	Statistical Result	Description	Result Category
Soronen, P.,2011	For MDD, allele, P-value = 0.007;For Mood, allele, P-value = 0.0033, OR=1.26, P-value(perm)=0.158	Significant association was found.	Positive