BDgene

SNP Report

Basic Info
Name rs17215801 dbSNP Ensembl
Location chr8:20179358 - 20179358(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele G
Minor Allele Frequence 0.0153754
Functional Annotation missense_variant; NMD_transcript_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000276373, ENST00000381608, ENST00000437980, ENST00000440926, ENST00000517776, ENST00000522513); possibly damaging(ENST00000265808, ENST00000519026)
SIFT Annotation: tolerated(ENST00000276373, ENST00000381608, ENST00000437980, ENST00000440926, ENST00000517776, ENST00000522513, ENST00000265808, ENST00000519026)
Consequence to Transcript missense_variant(ENST00000276373, ENST00000381608, ENST00000437980, ENST00000440926, ENST00000517776, ENST00000522513, ENST00000265808, ENST00000519026); NMD_transcript_variant(ENST00000517776); upstream_gene_variant(ENST00000524272)
No. of Studies 1 (Positive: 1; Negative: 0; 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=0.009 P-value=0.009 DNA Sanger sequencing of BPD patients identified several nov...... DNA Sanger sequencing of BPD patients identified several novel and rare variants. The Ser84 allele was absent in controls but present in seven BPD individuals, including one homozygote and six heterozygotes. More... Positive

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 rs17215801 (count: 0) View in gBrowse (chr8:20179358..20179358 )

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

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