SNP Report
Name | rs171441 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45815979 - 45815979(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.0814696 | ||
Annotation | upstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | upstream_gene_variant(ENST00000583888); intron_variant(ENST00000619154, ENST00000580955, ENST00000398285, ENST00000314537, ENST00000634540, ENST00000293493, ENST00000347197, ENST00000577353, ENST00000582766, ENST00000339069, ENST00000587305, ENST00000634876, ENST00000352855); NMD_transcript_variant(ENST00000580955, ENST00000347197); non_coding_transcript_variant(ENST00000582766, ENST00000587305, ENST00000634876) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000347197, ENST00000580955, ENST00000577353, ENST00000352855, ENST00000293493, ENST00000314537, ENST00000398285, ENST00000583888) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000347197, ENST00000580955, ENST00000577353, ENST00000352855, ENST00000293493, ENST00000314537, ENST00000398285, ENST00000583888) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | TF binding region | ||
Chromatin State | Weak transcription;Enhancers;Bivalent Enhancer | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
Source | Literature |
The LD data used here is based on 1000 Genome Phase I. LD SNP pairs were selected with a threshold r2<=0.8.