BDgene

SNP Report

Basic Info
Name rs147527383 dbSNP Ensembl
Location chr10:60070193 - 60070193(1)
Variant Alleles T/C
Ancestral Allele T
Minor Allele C
Minor Allele Frequence 0.00119808
Functional Annotation intron_variant; missense_variant; NMD_transcript_variant.
Polyphen Annotation: benign(ENST00000621739, ENST00000280772); possibly damaging(ENST00000610901, ENST00000613207)
SIFT Annotation: deleterious(ENST00000621739); deleterious - low confidence(ENST00000280772, ENST00000610901, ENST00000613207)
Consequence to Transcript intron_variant(ENST00000355288, ENST00000373820, ENST00000373827, ENST00000503366, ENST00000511043, ENST00000610321, ENST00000616444); missense_variant(ENST00000621739, ENST00000280772, ENST00000610901, ENST00000613207); NMD_transcript_variant(ENST00000621739)
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
Fiorentino A., 2014 T/C eurMLP=0.31 eurMLP=0.31 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)
ANK3 ankyrin 3, node of Ranvier (ankyrin G) 10q21 17(13/3/1)

SNPs in LD with rs147527383 (count: 0) View in gBrowse (chr10:60070193..60070193 )

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

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