SNP Report
Basic Info
| Name |
rs38478
dbSNP
Ensembl
|
| Location |
7:30561338 - 30561338(+) |
| Variant Seq |
A |
| Ancestral Allele |
G |
| Ref Seq |
G |
| Minor Allele Frequence |
0.262979 |
| Annotation |
downstream_gene_variant; non_coding_transcript_exon_variant; intron_variant; non_coding_transcript_variant
|
| Variant Effect |
downstream_gene_variant(ENST00000584108, ENST00000614950, ENST00000621272, ENST00000584199, ENST00000582145); non_coding_transcript_exon_variant(ENST00000355837); intron_variant(ENST00000426529, ENST00000584621, ENST00000631229, ENST00000577889, ENST00000578572, ENST00000580902, ENST00000578245, ENST00000626902, ENST00000578293, ENST00000434399); non_coding_transcript_variant(ENST00000426529, ENST00000584621, ENST00000631229, ENST00000577889, ENST00000578572, ENST00000580902, ENST00000578245, ENST00000355837, ENST00000626902, ENST00000578293, ENST00000434399)
|
| SIFT Annotation |
tolerated
|
| SIFT Variant Effect |
tolerated(ENST00000275428, ENST00000426081, ENST00000409436, ENST00000598361)
|
| PolyPhen Annotation |
benign; probably_damaging
|
| PolyPhen Variant Effect |
benign(ENST00000409436); probably_damaging(ENST00000275428, ENST00000426081, ENST00000598361)
|
| rSNP? |
Yes
Link in rVarBase
|
| Related Regulatory Elements |
lncRNA
|
| Chromatin State |
Weak transcription;Strong transcription;Enhancers;Genic enhancers
|
| No. of Marker's Association Results |
0 (Positive: 0; Negative: 0; Trend: 0) |
| Source |
LD-proxy |
SNP related association results
SNP related genes (count: 0)
SNPs in LD with rs38478 (count: 0)
SNP related eQTL (count: 1)
