SNP Report

Basic Info
Name |
rs62057121
dbSNP
Ensembl
|
Location |
17:45823394 - 45823394(+) |
Variant Seq |
A |
Ancestral Allele |
G |
Ref Seq |
G |
Minor Allele Frequence |
0.0860623 |
Annotation |
intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
intron_variant(ENST00000339069, ENST00000619154, ENST00000398285, ENST00000293493, ENST00000634540, ENST00000352855, ENST00000583888, ENST00000582766, ENST00000314537, ENST00000577353, ENST00000347197, ENST00000580955, ENST00000634876); NMD_transcript_variant(ENST00000583888, ENST00000347197, ENST00000580955); non_coding_transcript_variant(ENST00000582766, ENST00000634876)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000352855, ENST00000293493, ENST00000577353, ENST00000314537, ENST00000339069, ENST00000398285, ENST00000634540)
|
PolyPhen Annotation |
benign
|
PolyPhen Variant Effect |
benign(ENST00000352855, ENST00000293493, ENST00000577353, ENST00000314537, ENST00000339069, ENST00000398285, ENST00000634540)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Bivalent Enhancer;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: 2)

SNPs in LD with rs62057121 (count: 0)

SNP related eQTL (count: 1)