SNP Report

Basic Info
| Name |
rs72475805
dbSNP
Ensembl
|
| Location |
8:27501613 - 27501613(+) |
| Variant Seq |
A |
| Ancestral Allele |
G |
| Ref Seq |
G |
| Minor Allele Frequence |
0.0123802 |
| Annotation |
upstream_gene_variant; intron_variant; non_coding_transcript_variant
|
| Variant Effect |
upstream_gene_variant(ENST00000521924); intron_variant(ENST00000521400, ENST00000521780, ENST00000380476, ENST00000523827, ENST00000517536, ENST00000518379, ENST00000520623, ENST00000518328, ENST00000521684, ENST00000520666); non_coding_transcript_variant(ENST00000523827, ENST00000520623, ENST00000520666)
|
| SIFT Annotation |
deleterious
|
| SIFT Variant Effect |
deleterious(ENST00000380476, ENST00000518379, ENST00000521400, ENST00000521780, ENST00000521684, ENST00000518328)
|
| PolyPhen Annotation |
probably_damaging; possibly_damaging
|
| PolyPhen Variant Effect |
probably_damaging(ENST00000518379, ENST00000521684); possibly_damaging(ENST00000380476, ENST00000521400, ENST00000521780, ENST00000518328)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
Chromatin interactive region;lncRNA
|
| Chromatin State |
Weak transcription;Strong transcription;ZNF genes & repeats
|
| No. of Marker's Association Results |
0 (Positive: 0; Negative: 0; Trend: 0) |
| Source |
LD-proxy |

SNP related association results

SNP related genes (count: 1)

SNPs in LD with rs72475805 (count: 0)

SNP related eQTL (count: 1)