BDgene

SNP Report

Basic Info
Name rs2278392 dbSNP Ensembl
Location chr5:148548662 - 148548662(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.255591
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant; splice_region_variant.
Consequence to Transcript downstream_gene_variant(ENST00000519495); intron_variant(ENST00000360693, ENST00000362016, ENST00000377888, ENST00000517929, ENST00000520514, ENST00000521124, ENST00000521530, ENST00000521735, ENST00000522588, ENST00000524063, ENST00000631296); NMD_transcript_variant(ENST00000522588, ENST00000524063); non_coding_transcript_variant(ENST00000521124); splice_region_variant(ENST00000360693, ENST00000362016, ENST00000377888, ENST00000517929, ENST00000520514, ENST00000521124, ENST00000521530, ENST00000521735, ENST00000522588, ENST00000524063, ENST00000631296)
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
Yosifova, A.,2009 C/T Allelic association: P-value = 0.3 Allelic association: P-value = 0.3 No significant association was observed No significant association was observed Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
HTR4 5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled 5q31-q33 2(1/1/0)

SNPs in LD with rs2278392 (count: 6) View in gBrowse (chr5:148548336..148586683 )
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: 6)


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

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