SNP Report

Basic Info

Name	rs41283526 dbSNP Ensembl
Location	chr10:60145969 - 60145969(1)
Variant Alleles	T/C
Ancestral Allele	T
Minor Allele	C
Minor Allele Frequence	0.00399361
Functional Annotation	intron_variant; NMD_transcript_variant; splice_region_variant; synonymous_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000280772, ENST00000373827, ENST00000622427); NMD_transcript_variant(ENST00000622427); splice_region_variant(ENST00000460468, ENST00000474360, ENST00000503366); synonymous_variant(ENST00000460468, ENST00000474360, ENST00000503366); upstream_gene_variant(ENST00000355288)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Fiorentino A., 2014	T/C		eurMLP=0.95 eurMLP=0.95	No significant association was observed. No significant association was observed.	Negative
Hughes, T., 2015	A/G		P-value=2.8E-03,Â OR=0.31 for BD; P-value=1.7E-03,Â OR=0.21 ...... P-value=2.8E-03,Â OR=0.31 for BD; P-value=1.7E-03,Â OR=0.21 for SCZ; P-value=9.7E-05,Â OR=0.26 for BD and SCZ. More...	The splice site single nucleotide polymorphism (rs41283526) ...... The splice site single nucleotide polymorphism (rs41283526) is located in an alternatively spliced exon of ANK3 and has a strong and significant protective effect against bipolar disorder and schizophrenia. The minor allele of rs41283526 is a loss-of-function variant that disables the correct splicing of the transcript. More...	Positive

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 rs41283526 (count: 0) View in gBrowse (chr10:60145969..60145969 )

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

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