SNP Report

Basic Info

Name	rs3974590 dbSNP Ensembl
Location	chr18:11892846 - 11892846(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.409545
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000586844, ENST00000587381, ENST00000588103, ENST00000589829, ENST00000589859, ENST00000590501, ENST00000591667, ENST00000592180, ENST00000593001); intron_variant(ENST00000309976, ENST00000317235, ENST00000317251, ENST00000344987, ENST00000496196, ENST00000586364, ENST00000588072, ENST00000588186, ENST00000588191, ENST00000589267, ENST00000589731, ENST00000592331, ENST00000592447, ENST00000592894, ENST00000592977); NMD_transcript_variant(ENST00000317251, ENST00000496196); non_coding_transcript_variant(ENST00000586364, ENST00000589731, ENST00000592447, ENST00000592894); upstream_gene_variant(ENST00000587724)
No. of Studies	2 (Positive: 2; Negative: 0; 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
Yosifova, A.,2009	A/G		Allelic association: 1st screening: P-value = 0.00059, 2nd s...... Allelic association: 1st screening: P-value = 0.00059, 2nd screening: P-value = 0.45, total: P-value = 0.1 More...	Significant association was observed in 1st screening. Significant association was observed in 1st screening.	Positive
Lohoff, F. W., 2010	G/A		genotype test P-value = 0.022, allele test P-value = 0.009, ...... genotype test P-value = 0.022, allele test P-value = 0.009, P-value = 0.046 after permutation correction More...	statistically significant association statistically significant association	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
MPPE1	metallophosphoesterase 1	18p11.21	2(2/0/0)

SNPs in LD with rs3974590 (count: 1) View in gBrowse (chr18:11887885..11892846 )

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]
rs689057		downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant	0.803[CEU]

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

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