SNP Report

Basic Info
Name |
rs852980
dbSNP
Ensembl
|
Location |
5:143321291 - 143321291(+) |
Variant Seq |
C |
Ancestral Allele |
G |
Ref Seq |
G |
Minor Allele Frequence |
0.40016 |
Annotation |
intron_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000394466, ENST00000231509, ENST00000415690, ENST00000504336, ENST00000424646, ENST00000503201, ENST00000343796, ENST00000394464, ENST00000504572); non_coding_transcript_variant(ENST00000504336)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000504572, ENST00000394466, ENST00000394464, ENST00000343796, ENST00000424646, ENST00000231509, ENST00000415690, ENST00000503201)
|
PolyPhen Annotation |
probably_damaging
|
PolyPhen Variant Effect |
probably_damaging(ENST00000504572, ENST00000394466, ENST00000394464, ENST00000343796, ENST00000424646, ENST00000231509, ENST00000415690, ENST00000503201)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Strong transcription;Enhancers;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 rs852980 (count: 0)

SNP related eQTL (count: 1)