SNP Report

Basic Info
Name |
rs1393852
dbSNP
Ensembl
|
Location |
4:165947355 - 165947355(+) |
Variant Seq |
C |
Ancestral Allele |
C |
Ref Seq |
T |
Minor Allele Frequence |
0.169329 |
Annotation |
intron_variant; NMD_transcript_variant
|
Variant Effect |
intron_variant(ENST00000509505, ENST00000507499, ENST00000513213, ENST00000506144, ENST00000061240, ENST00000504560); NMD_transcript_variant(ENST00000509505, ENST00000504560)
|
SIFT Annotation |
tolerated_-_low_confidence; deleterious_-_low_confidence; deleterious
|
SIFT Variant Effect |
tolerated_-_low_confidence(ENST00000061240, ENST00000507499); deleterious_-_low_confidence(ENST00000504560, ENST00000513213); deleterious(ENST00000509505)
|
PolyPhen Annotation |
benign; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000504560, ENST00000061240, ENST00000507499); possibly_damaging(ENST00000513213, ENST00000509505)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Strong transcription
|
No. of Marker's Association Results |
0 (Positive: 0; Negative: 0; Trend: 0) |
Source |
LD-proxy |

SNP related association results

SNP related genes (count: 1)

SNPs in LD with rs1393852 (count: 0)

SNP related eQTL (count: 1)