SNP Report

Basic Info
Name |
rs472054
dbSNP
Ensembl
|
Location |
15:78595652 - 78595652(+) |
Variant Seq |
G |
Ancestral Allele |
A |
Ref Seq |
A |
Minor Allele Frequence |
0.256989 |
Annotation |
downstream_gene_variant; upstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000559576, ENST00000559554, ENST00000299565, ENST00000624172, ENST00000394802); upstream_gene_variant(ENST00000567141); 3_prime_UTR_variant(ENST00000326828); intron_variant(ENST00000559002, ENST00000348639, ENST00000559658); NMD_transcript_variant(ENST00000559658); non_coding_transcript_variant(ENST00000559002)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000326828, ENST00000348639, ENST00000559658)
|
PolyPhen Annotation |
possibly_damaging
|
PolyPhen Variant Effect |
possibly_damaging(ENST00000326828, ENST00000348639, ENST00000559658)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
TF binding region;Chromatin interactive region
|
Chromatin State |
Weak transcription;Strong transcription
|
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 rs472054 (count: 0)

SNP related eQTL (count: 1)