SNP Report

Basic Info
Name |
rs279864
dbSNP
Ensembl
|
Location |
4:46309018 - 46309018(+) |
Variant Seq |
A |
Ancestral Allele |
A |
Ref Seq |
G |
Minor Allele Frequence |
0.498602 |
Annotation |
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000506961, ENST00000503806); upstream_gene_variant(ENST00000514236); intron_variant(ENST00000514090, ENST00000515082, ENST00000510233, ENST00000630416, ENST00000381620, ENST00000514193, ENST00000356504, ENST00000513005, ENST00000507069, ENST00000510861, ENST00000540012); NMD_transcript_variant(ENST00000510233, ENST00000630416, ENST00000514193, ENST00000513005)
|
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? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Enhancers
|
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 rs279864 (count: 0)

SNP related eQTL (count: 1)