SNP Report

Basic Info
| Name |
rs279853
dbSNP
Ensembl
|
| Location |
4:46317461 - 46317461(+) |
| Variant Seq |
G |
| Ancestral Allele |
A |
| Ref Seq |
A |
| Minor Allele Frequence |
0.466853 |
| Annotation |
intron_variant; NMD_transcript_variant
|
| Variant Effect |
intron_variant(ENST00000513005, ENST00000506961, ENST00000507069, ENST00000630416, ENST00000514090, ENST00000503806, ENST00000514193, ENST00000510233, ENST00000540012, ENST00000381620, ENST00000356504, ENST00000510861, ENST00000515082); NMD_transcript_variant(ENST00000513005, ENST00000630416, ENST00000514193, ENST00000510233)
|
| SIFT Annotation |
deleterious
|
| SIFT Variant Effect |
deleterious(ENST00000506961, ENST00000510233, ENST00000514090, ENST00000507069, ENST00000503806, ENST00000381620, ENST00000510861, ENST00000540012, ENST00000515082, ENST00000356504)
|
| PolyPhen Annotation |
benign; probably_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000506961, ENST00000510233, ENST00000514090, ENST00000503806, ENST00000381620, ENST00000510861, ENST00000515082, ENST00000356504); probably_damaging(ENST00000507069, ENST00000540012)
|
| rSNP? |
No
Link in rVarBase
|
| Related Regulatory Elements |
n/a
|
| Chromatin State |
Inactive region
|
| 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 rs279853 (count: 0)

SNP related eQTL (count: 1)