BDgene

SNP Report

Basic Info
Name rs11199993 dbSNP Ensembl
Location chr10:121531750 - 121531750(1)
Variant Alleles G/C
Ancestral Allele G
Minor Allele C
Minor Allele Frequence 0.0904553
Functional Annotation intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript intron_variant(ENST00000336553, ENST00000346997, ENST00000351936, ENST00000356226, ENST00000357555, ENST00000358487, ENST00000360144, ENST00000369056, ENST00000369058, ENST00000369059, ENST00000369060, ENST00000369061, ENST00000457416, ENST00000490349, ENST00000604236, ENST00000613048); NMD_transcript_variant(ENST00000604236); non_coding_transcript_variant(ENST00000490349); upstream_gene_variant(ENST00000478859)
No. of Studies 1 (Positive: 1; Negative: 0; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 1)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Wang, T.,2012 C/G Allelic association results: P-value = 0.0006, Permutated P-...... Allelic association results: P-value = 0.0006, Permutated P-value = 0.007, OR=1.291, 95% CI=1.115-1.496 More... SNP rs11199993, showed significant association with BPD SNP rs11199993, showed significant association with BPD Positive

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
FGFR2 fibroblast growth factor receptor 2 10q25.3-q26 2(1/1/0)

SNPs in LD with rs11199993 (count: 0) View in gBrowse (chr10:121531750..121531750 )

Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Wang, T.,2012 Allelic association results:P-value = 0.088, Permutated P-value = 0.608 No significant association was observed in SZ. Negative

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Wang, T.,2012 Allelic association results:P-value = 0.018, Permutated P-value = 0.175 No significant association was observed in MDD Negative