SNP Report

Basic Info
Name |
rs6269
dbSNP
Ensembl
|
Location |
22:19962429 - 19962429(+) |
Variant Seq |
G |
Ancestral Allele |
G |
Ref Seq |
A |
Minor Allele Frequence |
0.356829 |
Annotation |
5_prime_UTR_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
5_prime_UTR_variant(ENST00000403710); upstream_gene_variant(ENST00000493893, ENST00000449653, ENST00000428707, ENST00000585066); intron_variant(ENST00000407537, ENST00000467943, ENST00000207636, ENST00000412786, ENST00000361682, ENST00000403184, ENST00000406520); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000467943)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000361682, ENST00000412786, ENST00000403184, ENST00000403710, ENST00000449653, ENST00000207636, ENST00000406520, ENST00000407537)
|
PolyPhen Annotation |
benign
|
PolyPhen Variant Effect |
benign(ENST00000361682, ENST00000412786, ENST00000403184, ENST00000403710, ENST00000449653, ENST00000207636, ENST00000406520, ENST00000407537)
|
rSNP? |
No
Link in rVarBase
|
Related Regulatory Elements |
N.A.
|
Chromatin State |
N.A.
|
No. of Marker's Association Results |
4 (Positive: 0; Negative: 4; Trend: 0) |
Source |
Literature |

SNP related association results

SNP related genes (count: 1)

SNPs in LD with rs6269 (count: 7)
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: 1)

|
rs_ID |
Annotation |
No. of Association Results(Positive/Negative/Trend) |
r2[population] |
rs4818
|
downstream_gene_variant(ENST00000467943); synonymous_variant(ENST00000406520, ENST00000412786, ENST00000403710, ENST00000361682, ENST00000449653, ENST00000407537, ENST00000207636, ENST00000403184); non_coding_transcript_exon_variant(ENST00000493893); upstream_gene_variant(ENST00000428707, ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000493893) |
4(0/4/0)
|
0.9621[EUR] |
LD-proxies (count: 6)

rs_ID |
Literature-origin SNPs with LD |
Annotation |
r2[population] |
rs3810595
|
rs4818
rs6269
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
1.0000[EUR] |
rs4646312
|
rs4818
rs6269
|
upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant |
0.9622[EUR] |
rs4646317
|
rs4818
rs6269
|
downstream_gene_variant; 3_prime_UTR_variant; intron_variant; NMD_transcript_variant |
0.8732[EUR] |
rs9306234
|
rs6269
|
downstream_gene_variant; intron_variant; NMD_transcript_variant |
0.8031[EUR] |
rs740601
|
rs4818
rs6269
|
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |
rs2239393
|
rs4818
rs6269
|
downstream_gene_variant; upstream_gene_variant; intron_variant; NMD_transcript_variant |
1.0000[EUR] |

SNP related eQTL (count: 1)