SNP Report
Name | rs113712660 dbSNP Ensembl | ||
---|---|---|---|
Location | 4:166075551 - 166075551(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.0189696 | ||
Annotation | intron_variant; NMD_transcript_variant | ||
Variant Effect | intron_variant(ENST00000507499, ENST00000509505, ENST00000061240); NMD_transcript_variant(ENST00000509505) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000507499, ENST00000061240) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000507499, ENST00000061240) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription | ||
No. of Marker's Association Results | 1 (Positive: 1; Negative: 0; Trend: 0) | ||
Source | Literature |