SNP Report

Basic Info

Name	rs504677 dbSNP Ensembl
Location	chr12:121167386 - 121167386(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.291134
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000535928, ENST00000545434); intron_variant(ENST00000261826, ENST00000328963, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000539695, ENST00000541022, ENST00000541564, ENST00000541716); NMD_transcript_variant(ENST00000261826, ENST00000535250, ENST00000535600, ENST00000537312, ENST00000538011, ENST00000539606, ENST00000541022, ENST00000541564, ENST00000541716); non_coding_transcript_variant(ENST00000539695)
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
McQuillin, A.,2009			Allelic Association: X²=0.288, P-value = 0.591 Allelic Association: X²=0.288, P-value = 0.591	No significant association was observed No significant association was observed	Negative
Barden, N., 2006	C/T		Allelic P-value = 0.387, OR (CI 95%)=0.88 (0.66-1.17), genot...... Allelic P-value = 0.387, OR (CI 95%)=0.88 (0.66-1.17), genotypic P-value = 0.0262, OR (CI 95%)=0.5 (0.27-0.92) under a recessive model More...	It gave significant allelic and/or genotypic association und...... It gave significant allelic and/or genotypic association under additive, dominant and recessive models. More...	Positive

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 rs504677 (count: 0) View in gBrowse (chr12:121167386..121167386 )

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

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