SNP Report

Basic Info
| Name |
rs174686
dbSNP
Ensembl
|
| Location |
22:19951187 - 19951187(+) |
| Variant Seq |
G,T |
| Ancestral Allele |
G |
| Ref Seq |
A |
| Minor Allele Frequence |
0.204273 |
| Annotation |
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
| Variant Effect |
upstream_gene_variant(ENST00000406520); intron_variant(ENST00000467943, ENST00000403184, ENST00000361682, ENST00000207636, ENST00000412786, ENST00000407537, ENST00000403710); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000467943)
|
| SIFT Annotation |
deleterious; tolerated
|
| SIFT Variant Effect |
deleterious(ENST00000400525); tolerated(ENST00000334363, ENST00000400521, ENST00000400519, LRG_417t1, ENST00000474308)
|
| PolyPhen Annotation |
benign
|
| PolyPhen Variant Effect |
benign(ENST00000334363, ENST00000400521, ENST00000400525, ENST00000400519, LRG_417t1, ENST00000474308)
|
| rSNP? |
No
Link in rVarBase
|
| Related Regulatory Elements |
N.A.
|
| Chromatin State |
N.A.
|
| 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 rs174686 (count: 12)
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: 12)

| rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
|
rs174689
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9100[AMR] |
|
rs174673
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
|
rs165879
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8919[AMR] |
|
rs174685
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.8745[AMR] |
|
rs2871046
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
|
rs12483995
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
|
rs10483103
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; splice_region_variant; non_coding_transcript_variant |
0.8923[AMR] |
|
rs174684
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
|
rs174687
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8576[AMR] |
|
rs2871047
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
|
rs174683
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
|
rs17210001
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8252[AMR] |

SNP related eQTL (count: 1)