SNP Report

Basic Info

Name	rs1018954 dbSNP Ensembl
Location	chr7:21510273 - 21510273(1)
Variant Alleles	T/A
Ancestral Allele	T
Minor Allele	A
Minor Allele Frequence	0.255192
Functional Annotation	intron_variant; NMD_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000222584, ENST00000448246); NMD_transcript_variant(ENST00000448246)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Zhou, X.,2009	T/A		Allelic association: Caucasian Families for Bipolar Disorder...... Allelic association: Caucasian Families for Bipolar Disorder: TDT: Risk allele is A, MAF=0.42, P-value = 0.592; Chinese Case-Controls for Bipolar Disorder: Risk allele is A, MAF=0.04, P-value = 0.001 More...	Significant association was observed in Chinese Case-Control...... Significant association was observed in Chinese Case-Controls for Bipolar Disorder. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SP4	Sp4 transcription factor	7p15	1(1/0/0)

SNPs in LD with rs1018954 (count: 6) View in gBrowse (chr7:21449311..21517337 )

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]
rs1011167	intron_variant; NMD_transcript_variant	0.811[TSI]; 1.0[CHD]
rs10249014	downstream_gene_variant	0.846[JPT]
rs2282901	intron_variant; NMD_transcript_variant	0.815[TSI]; 1.0[CHB]; 1.0[CHD]
rs6966442	intron_variant; NMD_transcript_variant	0.846[JPT]
rs10249112	downstream_gene_variant	0.846[JPT]
rs2107449	intron_variant; NMD_transcript_variant	0.846[JPT]

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

Reference	Statistical Result	Description	Result Category
Zhou, X.,2009	Allelic association:Chinese Trios for Schizophrenia:TDT:Risk allele is T, MAF=0.051, P-value = 0.129	No significant association was observed	Negative

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