SNP Report
Basic Info
| Name |
rs887242
dbSNP
Ensembl
|
| Location |
11:17999769 - 17999769(+) |
| Variant Seq |
C |
| Ancestral Allele |
T |
| Ref Seq |
T |
| Minor Allele Frequence |
0.301318 |
| Annotation |
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
| Variant Effect |
downstream_gene_variant(ENST00000524716, ENST00000525523); upstream_gene_variant(ENST00000529440, ENST00000532546); intron_variant(ENST00000532265, ENST00000529728, ENST00000525422, ENST00000525920, ENST00000265965, ENST00000529151, ENST00000533328, ENST00000527494, ENST00000530925, ENST00000530613, ENST00000532212, ENST00000528200, ENST00000532389); NMD_transcript_variant(ENST00000525422, ENST00000533328, ENST00000527494, ENST00000530925); non_coding_transcript_variant(ENST00000532212)
|
| SIFT Annotation |
deleterious
|
| SIFT Variant Effect |
deleterious(ENST00000527494, ENST00000532389, ENST00000525422, ENST00000529151, ENST00000532265, ENST00000265965, ENST00000528200, ENST00000525920, ENST00000529728, ENST00000530613)
|
| PolyPhen Annotation |
benign; possibly_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000527494, ENST00000525422, ENST00000532265, ENST00000528200, ENST00000525920, ENST00000529728); possibly_damaging(ENST00000532389, ENST00000529151, ENST00000265965, ENST00000530613)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
Chromatin interactive region
|
| Chromatin State |
Weak transcription;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 rs887242 (count: 0)
SNP related eQTL (count: 1)
