SNP Report

Basic Info
Name |
rs2279287
dbSNP
Ensembl
|
Location |
chr11:13276938 - 13276938(1) |
Variant Alleles |
T/C |
Ancestral Allele |
C |
Minor Allele |
T |
Minor Allele Frequence |
0.425519 |
Functional Annotation |
5_prime_UTR_variant; upstream_gene_variant.
|
Consequence to Transcript |
5_prime_UTR_variant(ENST00000529050, ENST00000534544); upstream_gene_variant(ENST00000389707, ENST00000401424, ENST00000403290, ENST00000403510, ENST00000480685, ENST00000482049, ENST00000527998, ENST00000529388, ENST00000529825, ENST00000530357, ENST00000533520) |
No. of Studies |
2 (Positive: 1; Negative: 1; Trend: 0) |
Source |
Literature |
Overlap with SZ? |
YES
|
Overlap with MDD? |
YES
|

SNP related studies (count: 2)

SNP related genes (count: 1)
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: 38)

rs_ID |
Literature-origin SNPs with LD |
Functional Annotation |
r2[population] |
rs10832012
|
|
upstream_gene_variant |
0.864[CEU]; 0.86[TSI]
|
rs11022733
|
|
|
0.864[CEU]
|
rs10832021
|
|
intron_variant; non_coding_transcript_variant |
0.859[TSI]
|
rs4146388
|
|
intron_variant; non_coding_transcript_variant |
0.864[CEU]; 0.803[TSI]
|
rs986720
|
|
|
0.864[CEU]
|
rs2403662
|
|
intron_variant; non_coding_transcript_variant |
0.953[CEU]
|
rs7109016
|
|
upstream_gene_variant |
0.953[CEU]; 1.0[TSI]
|
rs6486120
|
|
intron_variant; non_coding_transcript_variant |
0.857[TSI]
|
rs11022755
|
|
intron_variant; non_coding_transcript_variant |
0.905[CEU]
|
rs986721
|
|
|
0.864[CEU]
|
rs2279284
|
|
intron_variant; upstream_gene_variant |
0.908[CEU]; 0.86[TSI]
|
rs7951393
|
|
intron_variant; non_coding_transcript_variant |
0.834[TSI]
|
rs10766065
|
|
|
0.864[CEU]
|
rs900147
|
|
upstream_gene_variant |
0.947[CEU]
|
rs7114573
|
|
intron_variant; non_coding_transcript_variant |
0.859[TSI]
|
rs900145
|
|
upstream_gene_variant |
0.903[CEU]; 1.0[TSI]
|
rs4414197
|
|
intron_variant; non_coding_transcript_variant |
0.953[CEU]; 0.942[TSI]
|
rs12290622
|
|
intron_variant; non_coding_transcript_variant |
0.953[CEU]; 0.942[TSI]
|
rs4757138
|
|
upstream_gene_variant |
1.0[CEU]; 1.0[TSI]
|
rs11022754
|
|
intron_variant; non_coding_transcript_variant |
0.864[CEU]
|
rs4757141
|
|
intron_variant; non_coding_transcript_variant |
0.864[CEU]; 0.83[TSI]
|
rs998089
|
|
|
0.864[CEU]; 0.86[TSI]
|
rs11022738
|
|
|
0.864[CEU]; 0.834[TSI]
|
rs11022742
|
|
upstream_gene_variant |
0.908[CEU]; 0.86[TSI]
|
rs6486116
|
|
intron_variant; non_coding_transcript_variant |
0.859[TSI]
|
rs11022753
|
|
intron_variant; non_coding_transcript_variant |
0.864[CEU]; 0.803[TSI]
|
rs11022750
|
|
intron_variant; non_coding_transcript_variant |
0.864[CEU]; 0.83[TSI]
|
rs747601
|
|
|
0.864[CEU]
|
rs10766064
|
|
|
0.821[CEU]
|
rs11605518
|
|
|
0.864[CEU]
|
rs1481880
|
|
|
0.864[CEU]
|
rs1481891
|
|
intron_variant; non_coding_transcript_variant |
0.953[CEU]
|
rs10832007
|
|
|
0.864[CEU]
|
rs2279285
|
|
intron_variant; upstream_gene_variant |
1.0[CEU]; 1.0[TSI]
|
rs10766066
|
|
|
0.864[CEU]
|
rs2279286
|
|
5_prime_UTR_variant; upstream_gene_variant |
1.0[CEU]; 1.0[TSI]
|
rs2403661
|
|
|
0.953[CEU]; 0.971[TSI]
|
rs11022756
|
|
intron_variant; non_coding_transcript_variant |
0.953[CEU]
|

Overlap with SZ from cross-disorder studies (count: 1)
Reference |
Statistical Result |
Description |
Result Category |
Mansour, H. A., 2006 |
TDT P-value = 0.348, Trends test=0.173 for Pittsburgh SZ/SZA |
|
Negative |

Overlap with MDD from cross-disorder studies (count: 1)
Reference |
Statistical Result |
Description |
Result Category |
Soria, V.,2010 |
X2-tests:allele P-value = 0.178, Model Dominant, genotype P-value = 0.022, OR(95%CI)=0.71 (0.53-0.95) |
Significant association was found. |
Positive
|