SNP Report

Basic Info
Name |
rs2283236
dbSNP
Ensembl
|
Location |
11:17979720 - 17979720(+) |
Variant Seq |
C |
Ancestral Allele |
T |
Ref Seq |
T |
Minor Allele Frequence |
0.102636 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000529440, ENST00000528200, ENST00000529728, ENST00000529151, ENST00000525920, ENST00000533241, ENST00000525422, ENST00000265965, ENST00000532546, ENST00000532265, ENST00000527494); NMD_transcript_variant(ENST00000525422, ENST00000532546, ENST00000527494); non_coding_transcript_variant(ENST00000529440)
|
SIFT Annotation |
deleterious; tolerated
|
SIFT Variant Effect |
deleterious(ENST00000529728); tolerated(ENST00000533241, ENST00000265965, ENST00000528200, ENST00000530613, ENST00000525422, ENST00000529151, ENST00000532265, ENST00000532546)
|
PolyPhen Annotation |
benign; probably_damaging
|
PolyPhen Variant Effect |
benign(ENST00000533241, ENST00000265965, ENST00000528200, ENST00000530613, ENST00000532265); probably_damaging(ENST00000525422, ENST00000529151, ENST00000529728, ENST00000532546)
|
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 rs2283236 (count: 0)

SNP related eQTL (count: 1)