SNP Report

Basic Info
Name |
rs33388
dbSNP
Ensembl
|
Location |
5:143317730 - 143317730(+) |
Variant Seq |
T |
Ancestral Allele |
A |
Ref Seq |
A |
Minor Allele Frequence |
0.393371 |
Annotation |
intron_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000343796, ENST00000503201, ENST00000504336, ENST00000231509, ENST00000424646, ENST00000394464, ENST00000504572, ENST00000394466, ENST00000415690); non_coding_transcript_variant(ENST00000504336)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000394464, ENST00000343796, ENST00000415690, ENST00000394466, ENST00000503201, ENST00000424646, ENST00000504572, ENST00000231509)
|
PolyPhen Annotation |
possibly_damaging; probably_damaging
|
PolyPhen Variant Effect |
possibly_damaging(ENST00000415690, ENST00000394466, ENST00000504572, ENST00000231509); probably_damaging(ENST00000394464, ENST00000343796, ENST00000503201, ENST00000424646)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers;Genic enhancers;Strong transcription;Flanking Active TSS
|
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 rs33388 (count: 0)

SNP related eQTL (count: 1)