SNP Report
Name | rs4531275 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162216760 - 162216760(+) | ||
Variant Seq | C | ||
Ancestral Allele | C | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.495607 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000361897, ENST00000430120, ENST00000530878); NMD_transcript_variant(ENST00000430120) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000530878, ENST00000361897, ENST00000430120) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000530878); possibly_damaging(ENST00000361897, ENST00000430120) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers | ||
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.