SNP Report
Name | rs474523 dbSNP Ensembl | ||
---|---|---|---|
Location | 12:117328005 - 117328005(+) | ||
Variant Seq | C | ||
Ancestral Allele | C | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.208267 | ||
Annotation | downstream_gene_variant; intron_variant | ||
Variant Effect | downstream_gene_variant(ENST00000549189); intron_variant(ENST00000338101, ENST00000317775, ENST00000344089, ENST00000618760) | ||
SIFT Annotation | deleterious_-_low_confidence | ||
SIFT Variant Effect | deleterious_-_low_confidence(ENST00000344089, ENST00000317775, ENST00000618760, ENST00000338101) | ||
PolyPhen Annotation | benign; possibly_damaging | ||
PolyPhen Variant Effect | benign(ENST00000317775); possibly_damaging(ENST00000344089, ENST00000618760, ENST00000338101) | ||
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.