SNP Report
Name | rs806377 dbSNP Ensembl | ||
---|---|---|---|
Location | 6:88149004 - 88149004(+) | ||
Variant Seq | C | ||
Ancestral Allele | C | ||
Ref Seq | T | ||
Minor Allele Frequence | 0.490216 | ||
Annotation | upstream_gene_variant; intron_variant | ||
Variant Effect | upstream_gene_variant(ENST00000362094, ENST00000468898, ENST00000549890); intron_variant(ENST00000428600, ENST00000369499, ENST00000551417, ENST00000369501) | ||
SIFT Annotation | deleterious_-_low_confidence; tolerated_-_low_confidence; deleterious | ||
SIFT Variant Effect | deleterious_-_low_confidence(ENST00000362094, ENST00000468898); tolerated_-_low_confidence(ENST00000549890, ENST00000369501, ENST00000428600, ENST00000369499); deleterious(ENST00000551417) | ||
PolyPhen Annotation | benign; probably_damaging | ||
PolyPhen Variant Effect | benign(ENST00000551417, ENST00000549890, ENST00000369501, ENST00000428600, ENST00000369499); probably_damaging(ENST00000362094, ENST00000468898) | ||
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.