SNP Report

Basic Info
Name |
rs484616
dbSNP
Ensembl
|
Location |
11:17992317 - 17992317(+) |
Variant Seq |
T |
Ancestral Allele |
A |
Ref Seq |
A |
Minor Allele Frequence |
0.486422 |
Annotation |
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000530925, ENST00000533328); upstream_gene_variant(ENST00000533241); intron_variant(ENST00000532389, ENST00000525422, ENST00000532265, ENST00000525920, ENST00000532546, ENST00000265965, ENST00000529151, ENST00000529440, ENST00000527494, ENST00000529728, ENST00000530613, ENST00000528200); NMD_transcript_variant(ENST00000525422, ENST00000532546, ENST00000527494); non_coding_transcript_variant(ENST00000529440)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000265965, ENST00000528200, ENST00000525422)
|
PolyPhen Annotation |
probably_damaging
|
PolyPhen Variant Effect |
probably_damaging(ENST00000265965, ENST00000528200, ENST00000525422)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
TF binding region;Chromatin interactive region
|
Chromatin State |
Weak transcription;Strong transcription;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: 2)

SNPs in LD with rs484616 (count: 0)

SNP related eQTL (count: 1)