BDgene

SNP Report

Basic Info
Name rs148468662 dbSNP Ensembl
Location chr8:20179196 - 20179196(1)
Variant Alleles C/A/T
Ancestral Allele C
Minor Allele A
Minor Allele Frequence 1.99681E-4
Functional Annotation missense_variant; NMD_transcript_variant; upstream_gene_variant.
Polyphen Annotation: possibly damaging(ENST00000265808, ENST00000276373, ENST00000440926, ENST00000519026); benign(ENST00000381608, ENST00000437980, ENST00000517776, ENST00000522513)
SIFT Annotation: tolerated(ENST00000381608, ENST00000437980, ENST00000517776, ENST00000522513, ENST00000265808, ENST00000276373, ENST00000440926, ENST00000519026)
Consequence to Transcript missense_variant(ENST00000381608, ENST00000437980, ENST00000517776, ENST00000522513, ENST00000265808, ENST00000276373, ENST00000440926, ENST00000519026); NMD_transcript_variant(ENST00000517776); upstream_gene_variant(ENST00000524272)
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
Lohoff, F. W., 2013 P-value=0.199 P-value=0.199 DNA Sanger sequencing of BPD patients identified several nov...... DNA Sanger sequencing of BPD patients identified several novel and rare variants. The Leu138 frequency did not differ statistically between cases and controls. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
SLC18A1 solute carrier family 18 (vesicular monoamine transporter), member 1 8p21.3 3(2/1/0)

SNPs in LD with rs148468662 (count: 0) View in gBrowse (chr8:20179196..20179196 )

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

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