SNP Report

Basic Info
Name |
rs211130
dbSNP
Ensembl
|
Location |
11:17995326 - 17995326(+) |
Variant Seq |
T |
Ancestral Allele |
C |
Ref Seq |
C |
Minor Allele Frequence |
0.458866 |
Annotation |
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000532212); intron_variant(ENST00000533328, ENST00000527494, ENST00000529440, ENST00000528200, ENST00000532265, ENST00000530613, ENST00000530925, ENST00000532546, ENST00000525422, ENST00000532389, ENST00000265965, ENST00000525920, ENST00000529728, ENST00000529151); NMD_transcript_variant(ENST00000533328, ENST00000527494, ENST00000530925, ENST00000532546, ENST00000525422); non_coding_transcript_variant(ENST00000529440)
|
SIFT Annotation |
tolerated_-_low_confidence; tolerated
|
SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000530925); tolerated(ENST00000530613, ENST00000525422, ENST00000527494, ENST00000265965, ENST00000529728, ENST00000532265, ENST00000532389, ENST00000528200)
|
PolyPhen Annotation |
benign; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000530613, ENST00000525422, ENST00000527494, ENST00000265965, ENST00000529728, ENST00000532265, ENST00000532389, ENST00000528200); possibly_damaging(ENST00000530925)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers;Strong transcription;Genic 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 rs211130 (count: 0)

SNP related eQTL (count: 1)