SNP Report

Basic Info

Name	rs1044317 dbSNP Ensembl
Location	chr21:42296791 - 42296791(1)
Variant Alleles	A/G
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.414537
Functional Annotation	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant.
Consequence to Transcript	3_prime_UTR_variant(ENST00000343687, ENST00000347800, ENST00000361802, ENST00000398437, ENST00000398449, ENST00000398457); downstream_gene_variant(ENST00000496783); non_coding_transcript_exon_variant(ENST00000462050, ENST00000472587); non_coding_transcript_variant(ENST00000462050, ENST00000472587)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Kirov, G.,2001			Association analysis: TDT P-value = 0.3 Association analysis: TDT P-value = 0.3	No significant association was observed in BD. No significant association was observed in BD.	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
ABCG1	ATP-binding cassette, sub-family G (WHITE), member 1	21q22.3	1(0/1/0)

SNPs in LD with rs1044317 (count: 2) View in gBrowse (chr21:42295912..42298373 )

The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r²<=0.8.

rs_ID	Literature-origin SNPs with LD	Functional Annotation	r²[population]
rs1541290		downstream_gene_variant	0.81[TSI]
rs3788010		downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.906[TSI]

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

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