SNP Report

Basic Info

Name	rs139092048 dbSNP Ensembl
Location	chr10:60059785 - 60059785(1)
Variant Alleles	C/A
Ancestral Allele	C
Minor Allele	A
Minor Allele Frequence	9.98403E-4
Functional Annotation	downstream_gene_variant; intron_variant; missense_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant; upstream_gene_variant. Polyphen Annotation: possibly damaging(ENST00000514197); probably damaging(ENST00000616444, ENST00000373827, ENST00000511043); benign(ENST00000373820, ENST00000355288, ENST00000503366) SIFT Annotation: tolerated - low confidence(ENST00000355288, ENST00000503366, ENST00000373827, ENST00000511043); tolerated(ENST00000373820, ENST00000514197, ENST00000616444)
Consequence to Transcript	downstream_gene_variant(ENST00000459732, ENST00000613207, ENST00000619719, ENST00000621739); intron_variant(ENST00000280772, ENST00000610321, ENST00000610901); missense_variant(ENST00000373820, ENST00000355288, ENST00000503366, ENST00000514197, ENST00000616444, ENST00000373827, ENST00000511043); non_coding_transcript_exon_variant(ENST00000414383, ENST00000469721); non_coding_transcript_variant(ENST00000414383, ENST00000469721); upstream_gene_variant(ENST00000502769, ENST00000612776, ENST00000617800)
No. of Studies	2 (Positive: 0; Negative: 2; 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	C/A		eurMLP=0.58 eurMLP=0.58	No significant association was observed. No significant association was observed.	Negative
Dedman, A.,2012	C/A		Association analysis: for UCL1 sample, OR=0.81, P-Chi-square...... Association analysis: for UCL1 sample, OR=0.81, P-Chi-square Pearson=0.69, P-Chi-square Fisher Exact Test=0.8 More...	No significant association was observed in BD. No significant association was observed in BD.	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 rs139092048 (count: 0) View in gBrowse (chr10:60059785..60059785 )

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

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