SNP Report

Basic Info
Name |
rs242937
dbSNP
Ensembl
|
Location |
17:45821002 - 45821002(+) |
Variant Seq |
G |
Ancestral Allele |
A |
Ref Seq |
A |
Minor Allele Frequence |
0.357428 |
Annotation |
downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant
|
Variant Effect |
downstream_gene_variant(ENST00000587305); intron_variant(ENST00000347197, ENST00000293493, ENST00000580955, ENST00000398285, ENST00000634876, ENST00000314537, ENST00000583888, ENST00000634540, ENST00000619154, ENST00000352855, ENST00000582766, ENST00000339069, ENST00000577353); NMD_transcript_variant(ENST00000347197, ENST00000580955, ENST00000583888); non_coding_transcript_variant(ENST00000634876, ENST00000582766)
|
SIFT Annotation |
deleterious; tolerated
|
SIFT Variant Effect |
deleterious(ENST00000580955, ENST00000347197); tolerated(ENST00000577353, ENST00000293493, ENST00000398285, ENST00000314537, ENST00000583888, ENST00000352855)
|
PolyPhen Annotation |
benign; probably_damaging; possibly_damaging
|
PolyPhen Variant Effect |
benign(ENST00000577353, ENST00000398285, ENST00000352855); probably_damaging(ENST00000580955, ENST00000347197, ENST00000583888); possibly_damaging(ENST00000293493, ENST00000314537)
|
rSNP? |
Yes
Link in rVarBase
|
Related Regulatory Elements |
n/a
|
Chromatin State |
Weak transcription;Enhancers;Bivalent Enhancer
|
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 rs242937 (count: 0)

SNP related eQTL (count: 1)