BDgene

SNP Report

Basic Info
Name rs6010260 dbSNP Ensembl
Location chr22:50077414 - 50077414(1)
Variant Alleles C/A
Ancestral Allele C
Minor Allele A
Minor Allele Frequence 0.121605
Functional Annotation missense_variant; upstream_gene_variant.
Polyphen Annotation: possibly damaging(ENST00000311597, ENST00000395876, ENST00000442311)
SIFT Annotation: deleterious - low confidence(ENST00000311597, ENST00000395876); tolerated - low confidence(ENST00000442311)
Consequence to Transcript missense_variant(ENST00000311597, ENST00000395876, ENST00000442311); upstream_gene_variant(ENST00000470008, ENST00000483836)
No. of Studies 2 (Positive: 0; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Verma, R.,2005(b) G/T Case-control association: for BPAD, Fisher exact test, allel...... Case-control association: for BPAD, Fisher exact test, allele P-value > 0.05; chi-square test, genotype P-value(additive)>0.05, P-value(dominant)>0.05, P-value(recessive)>0.05 ; Family-Based Association: for BPAD, TDT, P-value > 0.05 More... No significant association was observed. No significant association was observed. Negative
Severinsen, J. E., 2006 (b) G/T P-value = 0.4011 in BD, P-value = 0.1631 in BD and SZ P-value = 0.4011 in BD, P-value = 0.1631 in BD and SZ Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1 22q13.33 5(1/4/0)

SNPs in LD with rs6010260 (count: 9) View in gBrowse (chr22:50062852..50179849 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 9)


Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Severinsen, J. E., 2006 (b) P-value = 0.0823 in SZ, P-value = 0.1631 in BD and SZ Negative
Verma, R.,2005(b) Case-control association:for SCZ, Fisher exact test, allele P-value > 0.05; chi-square test, genotype P-value(additive)>0.05, P-value(dominant)>0.05, P-value(recessive)>0.05 ;Family-Based Association:for SCZ, TDT, P-value > 0.05 No significant association was observed. Negative

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