SNP Report

Basic Info
| Name |
rs7917800
dbSNP
Ensembl
|
| Location |
10:60080409 - 60080409(+) |
| Variant Seq |
T |
| Ancestral Allele |
T |
| Ref Seq |
C |
| Minor Allele Frequence |
0.0978435 |
| Annotation |
downstream_gene_variant; upstream_gene_variant; intron_variant
|
| Variant Effect |
downstream_gene_variant(ENST00000508449, ENST00000622427); upstream_gene_variant(ENST00000365320); intron_variant(ENST00000503366, ENST00000610321, ENST00000511043, ENST00000280772, ENST00000373820, ENST00000373827, ENST00000618374, ENST00000355288, ENST00000616444)
|
| SIFT Annotation |
tolerated_-_low_confidence
|
| SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000280772, ENST00000610321)
|
| PolyPhen Annotation |
benign; possibly_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000280772); possibly_damaging(ENST00000610321)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
n/a
|
| Chromatin State |
Weak transcription;Strong transcription
|
| No. of Marker's Association Results |
1 (Positive: 1; Negative: 0; Trend: 0) |
| Source |
Literature |

SNP related association results

SNP related genes (count: 1)

SNPs in LD with rs7917800 (count: 19)
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.
Literature-origin SNPs (count: 4)

|
| rs_ID |
Annotation |
No. of Association Results(Positive/Negative/Trend) |
r2[population] |
|
rs28932171
|
missense_variant(ENST00000621739, ENST00000280772); upstream_gene_variant(ENST00000610901, ENST00000613207); intron_variant(ENST00000610321, ENST00000616444, ENST00000511043, ENST00000503366, ENST00000618374, ENST00000373827, ENST00000373820, ENST00000355288); NMD_transcript_variant(ENST00000621739) |
1(1/0/0)
|
0.8530[EUR] |
|
rs11599164
|
missense_variant(ENST00000621739, ENST00000280772); upstream_gene_variant(ENST00000613207, ENST00000610901); intron_variant(ENST00000511043, ENST00000373820, ENST00000503366, ENST00000616444, ENST00000355288, ENST00000373827, ENST00000618374, ENST00000610321); NMD_transcript_variant(ENST00000621739) |
1(1/0/0)
|
0.8530[EUR] |
|
rs17208576
|
synonymous_variant(ENST00000610321, ENST00000280772); upstream_gene_variant(ENST00000613207, ENST00000610901, ENST00000621739); intron_variant(ENST00000373827, ENST00000618374, ENST00000616444, ENST00000511043, ENST00000373820, ENST00000355288, ENST00000503366) |
1(1/0/0)
|
0.8530[EUR] |
|
rs7098848
|
downstream_gene_variant(ENST00000622427, ENST00000508449); upstream_gene_variant(ENST00000511043, ENST00000365320); intron_variant(ENST00000355288, ENST00000280772, ENST00000503366, ENST00000616444, ENST00000373827, ENST00000610321, ENST00000618374, ENST00000373820) |
1(1/0/0)
|
0.9325[EUR] |
LD-proxies (count: 15)


SNP related eQTL (count: 1)