BDgene

SNP Report

Basic Info
Name rs10994336 dbSNP Ensembl
Location chr10:60420054 - 60420054(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.123203
Functional Annotation intron_variant; NMD_transcript_variant.
Consequence to Transcript intron_variant(ENST00000373827, ENST00000503366, ENST00000622427); NMD_transcript_variant(ENST00000622427)
No. of Studies 12 (Positive: 7; Negative: 5; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 12)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Schulze, T. G.,2009 C/T single marker case-control association: in German sample, P-...... single marker case-control association: in German sample, P-value(OR)=0.112 (1.39), in NIMH 1-4 sample, P-value(OR)=0.241 (1.33), in NIMH 5 sample, P-value(OR)=0.241 (1.33) More... Significant association was observed Significant association was observed Positive
Dedman, A.,2012 T/C Association analysis: for UCL1 sample, P-value = 0.013, OR=1...... Association analysis: for UCL1 sample, P-value = 0.013, OR=1.63; for UCL2 sample, P-value = 0.93, OR=1.02; for UCL1+UCL2 sample, P-value = 0.048, OR=1.28 More... Significant association was observed in BD. Significant association was observed in BD. Positive
Lim C.H., 2014 C/T T All ethnicities: OR=1.01, 95%CI =0.76-1.33, P-value=0.976; M...... All ethnicities: OR=1.01, 95%CI =0.76-1.33, P-value=0.976; Malay: OR=0.49, 95%CI =0.30-0.81, P-value=0.006; Chinese: OR=1.19, 95%CI =0.76-1.86, P-value=0.439; Indian: OR=1.81, 95%CI =1.01-3.26, P-value=0.047 More... rs10994336 was significantly different between BPD and SZ pa...... rs10994336 was significantly different between BPD and SZ patients and controls of Malay ethnicity(P= 0.001 and 0.012, for BPD and SZ, respectively). More... Positive
Ferreira, M. A.,2008 T Imputed P value=9.1E-09, OR=1.45 in the combined analysis of...... Imputed P value=9.1E-09, OR=1.45 in the combined analysis of WTCCC, STEP-UCL and ED-DUB-STEP2 datasets. Imputed P value=0.0006 in the WTCCC. Imputed P value=0.0004 in the STEP-UCL. Imputed P value=0.0002 in the ED-DUB-STEP2 dataset. More... identified a region of strong association (rs10994336) in AN...... identified a region of strong association (rs10994336) in ANK3 (ankyrin G) More... Positive
Gella, A.,2011 C/T Genotype association: CC P-value = 0.182, CT P-value = 0.13,...... Genotype association: CC P-value = 0.182, CT P-value = 0.13, TT P-value = 0.415 for BD. More... No significant association was observed. No significant association was observed. Negative
Liu, Y.,2011 Meta analysis: P-value = 9.1E-09 Meta analysis: P-value = 9.1E-09 Significant association was found . Significant association was found . Positive
Kondo, K.,2013 T/C P-value = 0.16,OR= 1.07 P-value = 0.16,OR= 1.07 No significant association was observed. No significant association was observed. Negative
Gonzalez SD, 2013 FBAT P-value=0.053, Bonferroni-adjusted P-value=0.276, Z-sco...... FBAT P-value=0.053, Bonferroni-adjusted P-value=0.276, Z-score=1.939 More... No significant association was observed. No significant association was observed. Negative
Tesli, M.,2011 T/C SCOPE sample: MAF=0.068, Cochrane-Mantel-Haenszel test P-val...... SCOPE sample: MAF=0.068, Cochrane-Mantel-Haenszel test P-value = 0.3, Bonferroni corrected P-value = 0.9, OR (95%CI)=1.13(0.90-1.41); Icelandic sample: MAF(affected)=0.071, MAF(unaffected)=0.05, allelic P-value = 0.012, Bonferroni corrected P-value = 0.036, OR (95%CI)=1.45(1.09-1.90) More... Significant association was found. Significant association was found. Positive
Muhleisen, T. W., 2014 T/C T MooDS: P-value=0.171, OR=1.11; PGC: P-value=4.01E-9, OR=1.35...... MooDS: P-value=0.171, OR=1.11; PGC: P-value=4.01E-9, OR=1.35; MooDS-PGC: P-value=1.76E-8, adjusted P-value=2.34E-8, OR=1.27 More... Eighteen GWAS SNPs showing genome-wide evidence for associat...... Eighteen GWAS SNPs showing genome-wide evidence for association with BD in the combined MooDS and PGC samples. More... Positive
Lett, T. A.,2011 T/C T FBAT: P-value = 0.329 FBAT: P-value = 0.329 No significant association was observed in BD. No significant association was observed in BD. Negative
Takata, A.,2011(b) C/T T chi-square test: allele P-value = 0.489, OR(95%CI)=0.92(0.73...... chi-square test: allele P-value = 0.489, OR(95%CI)=0.92(0.73-1.16) for Korean sample; allele P-value = 0.918, OR(95%CI)=1.01(0.88-1.16) for Japanese sample; allele P-value = 0.214, OR(95%CI)=1.1(0.94-1.29) for Taiwan sample 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 rs10994336 (count: 0) View in gBrowse (chr10:60420054..60420054 )

Overlap with SZ from cross-disorder studies (count: 4)
Reference Statistical Result Description Result Category
Gella, A.,2011 Genotype association:CC P-value = 0.617, CT P-value = 0.689, TT P-value = 0.62 for SZ. No significant association was observed. Negative
Lim C.H., 2014 All ethnicities: OR=0.98, 95%CI =0.78-1.23, P-value=0.840; Malay: OR=0.62, 95%CI =0.40-0.95, P-value=0.029; Chinese: OR=1.05, 95%CI =0.76-1.46, P-value=0.776; Indian: OR=1.45, 95%CI =0.91-2.32, P-value=0.116 rs10994336 was significantly different between BPD and SZ patients and controls of Malay ethnicity(P= 0.001 and 0.012, for BPD and SZ, respectively). Positive
Kondo, K.,2013 P-value = 0.017,OR= 1.16 Significant association was observed. Positive
Tesli, M.,2011 SCOPE sample:MAF=0.068, Cochrane-Mantel-Haenszel test P-value = 0.64, Bonferroni corrected P-value = 1, OR (95%CI)=1.05(0.86-1.29);Icelandic sample:MAF(affected)=0.055, MAF(unaffected)=0.05, allelic P-value = 0.56, Bonferroni corrected P-value = 1, OR (95%CI)=1.08(0.83-1.39) No significant association was observed. Negative

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Liu, Y.,2011 Meta analysis:P-value = 5.0E-07 Suggestive association was found. Trend