SNP Report
Name | rs1353939 dbSNP Ensembl | ||
---|---|---|---|
Location | 12:117237548 - 117237548(+) | ||
Variant Seq | T | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.242812 | ||
Annotation | intron_variant | ||
Variant Effect | intron_variant(ENST00000338101, ENST00000618760, ENST00000344089, ENST00000317775) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000338101, ENST00000344089, ENST00000618760, ENST00000317775) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000338101, ENST00000344089, ENST00000618760, ENST00000317775) | ||
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.