SNP Report

Basic Info
Name rs12540583 dbSNP Ensembl
Location chrCHR_HSCHR7_1_CTG4_4:103211227 - 103211227(-1)
Variant Alleles C/A
Ancestral Allele A
Minor Allele C
Minor Allele Frequence 0.167931
Functional Annotation downstream_gene_variant; missense_variant; NMD_transcript_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant.
Polyphen Annotation: benign(ENST00000341533, ENST00000417955, ENST00000422589, ENST00000427257, ENST00000465647)
SIFT Annotation: tolerated(ENST00000341533, ENST00000417955, ENST00000422589, ENST00000427257, ENST00000465647)
Consequence to Transcript downstream_gene_variant(ENST00000418294); missense_variant(ENST00000341533, ENST00000417955, ENST00000422589, ENST00000427257, ENST00000465647); NMD_transcript_variant(ENST00000422589); upstream_gene_variant(ENST00000414118, ENST00000420631); intron_variant(ENST00000631820, ENST00000631940, ENST00000632400, ENST00000632491, ENST00000633207); non_coding_transcript_variant(ENST00000631820, ENST00000631940, ENST00000632400, ENST00000632491, ENST00000633207)
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
Pisanu, C., 2013 C/A logistic regression, P-value=0.7, OR=0.92 logistic regression, P-value=0.7, OR=0.92 Nominal association with BD or lithium response was not obse...... Nominal association with BD or lithium response was not observed in this study. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
NAPEPLD N-acyl phosphatidylethanolamine phospholipase D 7q22.1 1(1/0/0)

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

Literature-origin SNPs (count: 0)

LD-proxies (count: 4)

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

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