BDgene

SNP Report

Basic Info
Name rs17790493 dbSNP Ensembl
Location chr6:84194886 - 84194886(1)
Variant Alleles G/C
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.00998403
Functional Annotation missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; splice_region_variant.
Polyphen Annotation: probably damaging(ENST00000257766, ENST00000403245, ENST00000617909)
SIFT Annotation: deleterious(ENST00000257766, ENST00000403245, ENST00000617909)
Consequence to Transcript missense_variant(ENST00000257766, ENST00000403245, ENST00000617909); non_coding_transcript_exon_variant(ENST00000461137, ENST00000497936); non_coding_transcript_variant(ENST00000461137, ENST00000497936); splice_region_variant(ENST00000461137, ENST00000497936, ENST00000257766, ENST00000403245, ENST00000617909)
No. of Studies 1 (Positive: 0; Negative: 0; Trend: 1)
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
Georgi, B., 2014 G/C 7 in BPI, 4 in Well 7 in BPI, 4 in Well Top 30 Amish-specific putative damaging exonic missense vari...... Top 30 Amish-specific putative damaging exonic missense variants by prevalence in affected individuals. More... Trend

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
CEP162 centrosomal protein 162kDa 6q14.3 1(0/0/1)
KIAA1009 centrosomal protein 162kDa 6q14.3 Literature-origin; Mapped by Literature SNP

SNPs in LD with rs17790493 (count: 0) View in gBrowse (chr6:84194886..84194886 )

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

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