Name |
rs17802184
dbSNP
Ensembl
|
Location |
10:60063571 - 60063571(+) |
Variant Seq |
G |
Ancestral Allele |
T |
Ref Seq |
T |
Minor Allele Frequence |
0.0313498 |
Annotation |
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000414383, ENST00000619719); upstream_gene_variant(ENST00000469721, ENST00000612776); intron_variant(ENST00000355288, ENST00000618374, ENST00000621739, ENST00000610321, ENST00000280772, ENST00000613207, ENST00000459732, ENST00000514197, ENST00000616444, ENST00000503366, ENST00000373827, ENST00000511043, ENST00000373820, ENST00000610901); NMD_transcript_variant(ENST00000621739)
|
SIFT Annotation |
tolerated_-_low_confidence; deleterious_-_low_confidence; deleterious; tolerated
|
SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000355288, ENST00000503366, ENST00000373827, ENST00000280772, ENST00000610321, ENST00000373820, ENST00000502769, ENST00000617800); deleterious_-_low_confidence(ENST00000355288, ENST00000503366, ENST00000373827, ENST00000280772, ENST00000610321, ENST00000373820, ENST00000502769, ENST00000617800); deleterious(ENST00000612776, ENST00000616444); tolerated(ENST00000612776, ENST00000616444)
|
PolyPhen Annotation |
benign; probably_damaging; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000355288, ENST00000612776, ENST00000503366, ENST00000373827, ENST00000280772, ENST00000610321, ENST00000373820, ENST00000502769, ENST00000617800, ENST00000616444); probably_damaging(ENST00000610321, ENST00000616444); possibly_damaging(ENST00000612776, ENST00000373827, ENST00000502769)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers;Strong transcription
|
No. of Marker's Association Results |
0 (Positive: 0; Negative: 0; Trend: 0) |
Source |
LD-proxy |