SNP Report

Basic Info
Name |
rs12950522
dbSNP
Ensembl
|
Location |
17:45781740 - 45781740(+) |
Variant Seq |
C |
Ancestral Allele |
A |
Ref Seq |
A |
Minor Allele Frequence |
0.42492 |
Annotation |
upstream_gene_variant; intron_variant; non_coding_transcript_variant
|
Variant Effect |
upstream_gene_variant(ENST00000339069, ENST00000352855, ENST00000619154, ENST00000293493, ENST00000314537, ENST00000347197, ENST00000577353, ENST00000398285, ENST00000582766); intron_variant(ENST00000587305, ENST00000634540); 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 |
Enhancers;Bivalent Enhancer;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: 1)

SNPs in LD with rs12950522 (count: 0)

SNP related eQTL (count: 1)