SNP Report

Basic Info
Name |
rs4335809
dbSNP
Ensembl
|
Location |
17:45824850 - 45824850(+) |
Variant Seq |
T |
Ancestral Allele |
C |
Ref Seq |
C |
Minor Allele Frequence |
0.086262 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000347197, ENST00000577353, ENST00000339069, ENST00000619154, ENST00000634876, ENST00000398285, ENST00000582766, ENST00000583888, ENST00000314537, ENST00000293493, ENST00000634540, ENST00000352855, ENST00000580955); NMD_transcript_variant(ENST00000347197, ENST00000583888, ENST00000580955); non_coding_transcript_variant(ENST00000634876, ENST00000582766)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000634540, ENST00000339069, ENST00000293493, ENST00000398285, ENST00000352855, ENST00000314537, ENST00000577353)
|
PolyPhen Annotation |
possibly_damaging; probably_damaging
|
PolyPhen Variant Effect |
possibly_damaging(ENST00000339069, ENST00000314537, ENST00000577353); probably_damaging(ENST00000634540, ENST00000293493, ENST00000398285, ENST00000352855)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Enhancers;Weak 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: 2)

SNPs in LD with rs4335809 (count: 0)

SNP related eQTL (count: 1)