SNP Report

Basic Info
Name |
rs11599447
dbSNP
Ensembl
|
Location |
10:60109301 - 60109301(+) |
Variant Seq |
C |
Ancestral Allele |
T |
Ref Seq |
T |
Minor Allele Frequence |
0.0289537 |
Annotation |
upstream_gene_variant; intron_variant; NMD_transcript_variant
|
Variant Effect |
upstream_gene_variant(ENST00000616444, ENST00000610321); intron_variant(ENST00000622427, ENST00000513049, ENST00000355288, ENST00000373827, ENST00000618080, ENST00000280772, ENST00000503366, ENST00000467420, ENST00000618374, ENST00000373815); NMD_transcript_variant(ENST00000622427)
|
SIFT Annotation |
tolerated_-_low_confidence
|
SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000618080)
|
PolyPhen Annotation |
benign
|
PolyPhen Variant Effect |
benign(ENST00000618080)
|
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 rs11599447 (count: 11)
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: 0)
LD-proxies (count: 11)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs10994188
|
rs11599447
|
downstream_gene_variant; upstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8343[EUR] |
rs7902923
|
rs11599447
|
intron_variant; NMD_transcript_variant |
0.9491[EUR] |
rs11593303
|
rs11599447
|
upstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |
rs11597608
|
rs11599447
|
upstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |
rs11596060
|
rs11599447
|
downstream_gene_variant; intron_variant; NMD_transcript_variant |
0.9748[EUR] |
rs7084246
|
rs11599447
|
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant |
0.8767[EUR] |
rs11598556
|
rs11599447
|
intron_variant; NMD_transcript_variant |
0.9251[EUR] |
rs10994207
|
rs11599447
|
upstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |
rs11593565
|
rs11599447
|
downstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |
rs12251392
|
rs11599447
|
intron_variant; NMD_transcript_variant |
0.9251[EUR] |
rs11596068
|
rs11599447
|
intron_variant; NMD_transcript_variant |
0.9251[EUR] |

SNP related eQTL (count: 1)