SNP Report

Basic Info
Name |
rs2270007
dbSNP
Ensembl
|
Location |
7:30660356 - 30660356(+) |
Variant Seq |
C |
Ancestral Allele |
C |
Ref Seq |
G |
Minor Allele Frequence |
0.200679 |
Annotation |
intron_variant; NMD_transcript_variant
|
Variant Effect |
intron_variant(ENST00000348438, ENST00000471646, ENST00000341843, ENST00000452278, ENST00000506074); NMD_transcript_variant(ENST00000452278)
|
SIFT Annotation |
deleterious
|
SIFT Variant Effect |
deleterious(ENST00000348438, ENST00000341843, ENST00000471646, ENST00000506074)
|
PolyPhen Annotation |
probably_damaging
|
PolyPhen Variant Effect |
probably_damaging(ENST00000348438, ENST00000341843, ENST00000471646, ENST00000506074)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers;Active TSS
|
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 rs2270007 (count: 0)

SNP related eQTL (count: 1)