SNP Report

Basic Info
Name |
rs211128
dbSNP
Ensembl
|
Location |
11:17993808 - 17993808(+) |
Variant Seq |
G |
Ancestral Allele |
G |
Ref Seq |
A |
Minor Allele Frequence |
0.452875 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000525920, ENST00000525422, ENST00000527494, ENST00000528200, ENST00000532389, ENST00000265965, ENST00000529440, ENST00000532546, ENST00000533328, ENST00000529151, ENST00000530925, ENST00000530613, ENST00000532265, ENST00000529728); NMD_transcript_variant(ENST00000525422, ENST00000527494, ENST00000532546, ENST00000533328, ENST00000530925); non_coding_transcript_variant(ENST00000529440)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000529151, ENST00000532389, ENST00000532265, ENST00000525422, ENST00000265965, ENST00000530613, ENST00000529728, ENST00000528200, ENST00000532546, ENST00000525920)
|
PolyPhen Annotation |
benign; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000532389, ENST00000532265, ENST00000265965, ENST00000530613, ENST00000528200); possibly_damaging(ENST00000529151, ENST00000525422, ENST00000529728, ENST00000532546, ENST00000525920)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
Chromatin interactive region
|
Chromatin State |
Weak transcription;Strong transcription;Bivalent Enhancer;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 rs211128 (count: 0)

SNP related eQTL (count: 1)