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] |
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] |
rs12483995
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
rs174673
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
rs2871047
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
rs174687
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8576[AMR] |
rs174684
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
rs174683
|
rs174686
|
upstream_gene_variant; intron_variant; non_coding_transcript_variant |
0.9100[AMR] |
rs2871046
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8923[AMR] |
rs17210001
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8252[AMR] |
rs10483103
|
rs174686
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; splice_region_variant; non_coding_transcript_variant |
0.8923[AMR] |
rs174689
|
rs174686
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9100[AMR] |

SNP related eQTL (count: 1)