SNP Report

Basic Info
Name |
rs12442490
dbSNP
Ensembl
|
Location |
15:61193166 - 61193166(+) |
Variant Seq |
T |
Ancestral Allele |
T |
Ref Seq |
C |
Minor Allele Frequence |
0.207069 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000559145, ENST00000561093, ENST00000335670, ENST00000551975, ENST00000558904, ENST00000560300, ENST00000557822, ENST00000560876); NMD_transcript_variant(ENST00000551975); non_coding_transcript_variant(ENST00000559145, ENST00000561093, ENST00000560300, ENST00000557822, ENST00000560876)
|
SIFT Annotation |
deleterious_-_low_confidence; tolerated
|
SIFT Variant Effect |
deleterious_-_low_confidence(ENST00000551975); tolerated(ENST00000335670)
|
PolyPhen Annotation |
benign; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000335670); possibly_damaging(ENST00000551975)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak 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 rs12442490 (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: 0)
LD-proxies (count: 19)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs11071592
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9380[EUR]; 0.8595[AMR] |
rs16943763
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9688[EUR]; 0.9827[AFR]; 0.9514[AMR] |
rs16943758
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9537[EUR]; 0.9827[AFR]; 0.9514[AMR] |
rs12441507
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9913[AFR]; 0.9837[AMR] |
rs28754581
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8317[EUR]; 0.8160[AMR] |
rs12593777
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9373[AMR] |
rs1437546
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9845[EUR]; 0.9524[AMR] |
rs12437877
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8011[EUR] |
rs4517733
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9845[EUR]; 0.9524[AMR] |
rs28716779
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9913[AFR]; 1.0000[AMR] |
rs12441702
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9375[EUR] |
rs28611274
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9845[EUR]; 1.0000[AFR]; 1.0000[AMR] |
rs1813147
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.8056[EUR]; 0.8918[AMR] |
rs10519115
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9913[AFR]; 1.0000[AMR] |
rs1529991
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR]; 0.9524[AMR] |
rs8035563
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9688[EUR]; 0.8778[AMR] |
rs1437545
|
rs12442490
|
intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9845[EUR]; 0.9524[AMR] |
rs2277557
|
rs12442490
|
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9688[EUR]; 0.8884[AMR] |
rs1025676
|
rs12442490
|
non_coding_transcript_exon_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9845[EUR]; 0.9373[AMR] |

SNP related eQTL (count: 1)