SNP Report

Basic Info
Name |
rs2299623
dbSNP
Ensembl
|
Location |
11:18009745 - 18009745(+) |
Variant Seq |
A |
Ancestral Allele |
A |
Ref Seq |
G |
Minor Allele Frequence |
0.451278 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000533328, ENST00000528200, ENST00000530613, ENST00000532389, ENST00000530925, ENST00000529728, ENST00000530951, ENST00000524716, ENST00000525523, ENST00000525422, ENST00000265965, ENST00000532212, ENST00000527494, ENST00000532265); NMD_transcript_variant(ENST00000533328, ENST00000530925, ENST00000524716, ENST00000525422, ENST00000527494); non_coding_transcript_variant(ENST00000530951, ENST00000525523, ENST00000532212)
|
SIFT Annotation |
tolerated_-_low_confidence; tolerated
|
SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000528200); tolerated(ENST00000265965, ENST00000525422)
|
PolyPhen Annotation |
unknown; benign
|
PolyPhen Variant Effect |
unknown(ENST00000524716); benign(ENST00000528200, ENST00000265965, ENST00000525422)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
Chromatin interactive region
|
Chromatin State |
Weak 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 rs2299623 (count: 0)

SNP related eQTL (count: 1)