SNP Report
Name | rs242939 dbSNP Ensembl | ||
---|---|---|---|
Location | 17:45818213 - 45818213(+) | ||
Variant Seq | T | ||
Ancestral Allele | T | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.113019 | ||
Annotation | downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000587305); intron_variant(ENST00000580955, ENST00000314537, ENST00000293493, ENST00000577353, ENST00000352855, ENST00000347197, ENST00000583888, ENST00000634876, ENST00000398285, ENST00000582766, ENST00000634540, ENST00000619154, ENST00000339069); NMD_transcript_variant(ENST00000580955, ENST00000347197, ENST00000583888); non_coding_transcript_variant(ENST00000634876, ENST00000582766) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000580955, ENST00000398285, ENST00000577353, ENST00000347197, ENST00000293493, ENST00000314537) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000580955, ENST00000398285, ENST00000577353, ENST00000347197, ENST00000293493, ENST00000314537) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription | ||
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.