SNP Report

Basic Info

Name	rs5748427 dbSNP Ensembl
Location	chr22:19787764 - 19787764(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.492812
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000329517); downstream_gene_variant(ENST00000359500, ENST00000403325, ENST00000405009, ENST00000460402, ENST00000621939); upstream_gene_variant(ENST00000424559)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Li, Y.,2011	A/G		For BD, chi square test: allele P-value = 0.0005 For BD, chi square test: allele P-value = 0.0005	Significant association was found . Significant association was found .	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
TBX1	T-box 1	22q11.21	Mapped by Literature SNP
GNB1L	guanine nucleotide binding protein (G protein), beta polypeptide 1-like	22q11.2	1(1/0/0)

SNPs in LD with rs5748427 (count: 4) View in gBrowse (chr22:19784045..19807668 )

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]
rs880194	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.95[CHB]; 1.0[JPT]
rs3788301	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.9[CHB]; 0.922[CHD]; 0.902[JPT]
rs5993830	3_prime_UTR_variant; downstream_gene_variant	0.95[CHB]; 1.0[CHD]; 1.0[JPT]
rs2073762	3_prime_UTR_variant; downstream_gene_variant	0.854[JPT]

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

Reference	Statistical Result	Description	Result Category
Li, Y.,2011	For SZ, chi square test:allele P-value = 0.0011	Significant association was observed in SZ.	Positive

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

Reference	Statistical Result	Description	Result Category
Li, Y.,2011	For MDD, chi square test:allele P-value = 0.0304	Significant association was observed in MDD.	Positive