BDgene

SNP Report

Basic Info
Name rs2297270 dbSNP Ensembl
Location chr21:40353703 - 40353703(1)
Variant Alleles G/C
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.142572
Functional Annotation missense_variant; upstream_gene_variant.
Polyphen Annotation: benign(ENST00000400454, ENST00000617870)
SIFT Annotation: tolerated(ENST00000400454, ENST00000617870)
Consequence to Transcript missense_variant(ENST00000400454, ENST00000617870); upstream_gene_variant(ENST00000404019)
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
Amano, K., 2008 G/C Genotypic P-value = 0.5047, allelic P-value = 0.4106 for BD ...... Genotypic P-value = 0.5047, allelic P-value = 0.4106 for BD when compared with controls More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DSCAM Down syndrome cell adhesion molecule 21q22.2-q22.3 3(1/2/0)

SNPs in LD with rs2297270 (count: 10) View in gBrowse (chr21:40337927..40392673 )
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: 10)


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

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