SNP Report

Basic Info
| Name |
rs4074461
dbSNP
Ensembl
|
| Location |
17:45777790 - 45777790(+) |
| Variant Seq |
T |
| Ancestral Allele |
T |
| Ref Seq |
G |
| Minor Allele Frequence |
0.372204 |
| Annotation |
intron_variant; non_coding_transcript_variant
|
| Variant Effect |
intron_variant(ENST00000634540, ENST00000587305); non_coding_transcript_variant(ENST00000587305)
|
| SIFT Annotation |
deleterious; tolerated
|
| SIFT Variant Effect |
deleterious(ENST00000430334); tolerated(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780)
|
| PolyPhen Annotation |
benign; possibly_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000430334, ENST00000581448, ENST00000584420, ENST00000589780); possibly_damaging(ENST00000430334, ENST00000584420)
|
| 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 rs4074461 (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: 3)

|
| rs_ID |
Annotation |
No. of Association Results(Positive/Negative/Trend) |
r2[population] |
|
rs242924
|
intron_variant(ENST00000577353, ENST00000339069, ENST00000398285, ENST00000582766, ENST00000634876, ENST00000352855, ENST00000634540, ENST00000619154, ENST00000580955, ENST00000587305, ENST00000347197, ENST00000293493, ENST00000314537); NMD_transcript_variant(ENST00000580955, ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000634876, ENST00000587305) |
2(0/2/0)
|
0.8345[EUR] |
|
rs110402
|
upstream_gene_variant(ENST00000580955); intron_variant(ENST00000352855, ENST00000619154, ENST00000582766, ENST00000634876, ENST00000587305, ENST00000634540, ENST00000398285, ENST00000314537, ENST00000347197, ENST00000577353, ENST00000293493, ENST00000339069); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000634876, ENST00000587305) |
2(0/2/0)
|
0.8590[EUR] |
|
rs7209436
|
intron_variant(ENST00000293493, ENST00000619154, ENST00000314537, ENST00000398285, ENST00000352855, ENST00000582766, ENST00000587305, ENST00000634540, ENST00000347197, ENST00000577353, ENST00000339069); NMD_transcript_variant(ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000587305) |
2(0/2/0)
|
0.8053[EUR] |
LD-proxies (count: 6)


SNP related eQTL (count: 1)