SNP Report

Basic Info
Name |
rs973002
dbSNP
Ensembl
|
Location |
7:30659288 - 30659288(+) |
Variant Seq |
A |
Ancestral Allele |
A |
Ref Seq |
G |
Minor Allele Frequence |
0.216853 |
Annotation |
intron_variant; NMD_transcript_variant
|
Variant Effect |
intron_variant(ENST00000506074, ENST00000341843, ENST00000348438, ENST00000471646, ENST00000452278); NMD_transcript_variant(ENST00000452278)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000506074, ENST00000341843, ENST00000348438, ENST00000471646)
|
PolyPhen Annotation |
benign
|
PolyPhen Variant Effect |
benign(ENST00000506074, ENST00000341843, ENST00000348438, ENST00000471646)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers
|
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 rs973002 (count: 9)
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: 9)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs38488
|
rs973002
|
downstream_gene_variant; non_coding_transcript_exon_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8891[EUR] |
rs2709787
|
rs973002
|
downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8733[EUR] |
rs38473
|
rs973002
|
downstream_gene_variant; non_coding_transcript_exon_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8309[EUR] |
rs38498
|
rs973002
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8383[EUR] |
rs38485
|
rs973002
|
downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8891[EUR] |
rs38478
|
rs973002
|
downstream_gene_variant; non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant |
0.8387[EUR] |
rs2270007
|
rs973002
|
intron_variant; NMD_transcript_variant |
0.9913[EUR] |
rs38462
|
rs973002
|
downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8008[EUR] |
rs2709788
|
rs973002
|
downstream_gene_variant; upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8579[EUR] |

SNP related eQTL (count: 1)