SNP Report
Name | rs16857031 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:162143120 - 162143120(+) | ||
Variant Seq | G | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.189297 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000361897, ENST00000430120, ENST00000530878); NMD_transcript_variant(ENST00000430120) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000361897, ENST00000530878, ENST00000430120) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000361897, ENST00000530878, ENST00000430120) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Enhancers;Weak transcription;Bivalent Enhancer | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
Source | Literature |