SNP Report

Basic Info
Name |
rs2619520
dbSNP
Ensembl
|
Location |
6:15655924 - 15655924(+) |
Variant Seq |
A |
Ancestral Allele |
A |
Ref Seq |
C |
Minor Allele Frequence |
0.112819 |
Annotation |
intron_variant; NMD_transcript_variant
|
Variant Effect |
intron_variant(LRG_588t2, ENST00000515875, ENST00000344537, LRG_588t1, ENST00000510395, ENST00000355917, ENST00000338950, ENST00000511762, ENST00000513680, ENST00000622898, ENST00000506844); NMD_transcript_variant(ENST00000515875, ENST00000510395, ENST00000513680, ENST00000506844)
|
SIFT Annotation |
tolerated
|
SIFT Variant Effect |
tolerated(ENST00000344537, ENST00000355917, LRG_588t1, ENST00000622898, ENST00000515875, ENST00000511762, ENST00000338950, LRG_588t2)
|
PolyPhen Annotation |
benign; possibly_damaging; probably_damaging
|
PolyPhen Variant Effect |
benign(ENST00000355917, ENST00000515875); possibly_damaging(ENST00000511762); probably_damaging(ENST00000344537, LRG_588t1, ENST00000622898, ENST00000338950, LRG_588t2)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;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: 1)

SNPs in LD with rs2619520 (count: 0)

SNP related eQTL (count: 1)