SNP Report
Name | rs532967 dbSNP Ensembl | ||
---|---|---|---|
Location | 12:117294534 - 117294534(+) | ||
Variant Seq | G | ||
Ancestral Allele | G | ||
Ref Seq | A | ||
Minor Allele Frequence | 0.158546 | ||
Annotation | intron_variant | ||
Variant Effect | intron_variant(ENST00000618760, ENST00000317775, ENST00000344089, ENST00000338101) | ||
SIFT Annotation | tolerated_-_low_confidence | ||
SIFT Variant Effect | tolerated_-_low_confidence(ENST00000317775, ENST00000618760, ENST00000344089, ENST00000338101) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000317775, ENST00000618760, ENST00000344089, ENST00000338101) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Enhancers;Bivalent Enhancer;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.