SNP Report

Basic Info
| Name |
rs4309444
dbSNP
Ensembl
|
| Location |
17:45818431 - 45818431(+) |
| Variant Seq |
C |
| Ancestral Allele |
C |
| Ref Seq |
T |
| Minor Allele Frequence |
0.0860623 |
| Annotation |
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
| Variant Effect |
downstream_gene_variant(ENST00000587305); intron_variant(ENST00000347197, ENST00000580955, ENST00000314537, ENST00000634540, ENST00000619154, ENST00000352855, ENST00000398285, ENST00000339069, ENST00000577353, ENST00000582766, ENST00000293493, ENST00000583888, ENST00000634876); NMD_transcript_variant(ENST00000347197, ENST00000580955, ENST00000583888); non_coding_transcript_variant(ENST00000582766, ENST00000634876)
|
| SIFT Annotation |
deleterious
|
| SIFT Variant Effect |
deleterious(ENST00000580955, ENST00000293493, ENST00000314537, ENST00000577353, ENST00000347197, ENST00000398285)
|
| PolyPhen Annotation |
possibly_damaging; probably_damaging
|
| PolyPhen Variant Effect |
possibly_damaging(ENST00000293493, ENST00000314537, ENST00000577353, ENST00000347197, ENST00000398285); probably_damaging(ENST00000580955)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
n/a
|
| Chromatin State |
Weak transcription;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: 2)

SNPs in LD with rs4309444 (count: 0)

SNP related eQTL (count: 1)