SNP Report
Name | rs7524148 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:46413119 - 46413119(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Annotation | downstream_gene_variant; missense_variant; intron_variant; splice_region_variant; NMD_transcript_variant | ||
Variant Effect | downstream_gene_variant(ENST00000493735, ENST00000493636, ENST00000489366); missense_variant(ENST00000243167); intron_variant(ENST00000484697); splice_region_variant(ENST00000484697); NMD_transcript_variant(ENST00000484697) | ||
SIFT Annotation | deleterious | ||
SIFT Variant Effect | deleterious(ENST00000243167) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000243167) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | Chromatin interactive region | ||
Chromatin State | Weak transcription;Strong transcription;Enhancers;Bivalent Enhancer;Genic enhancers | ||
No. of Marker's Association Results | 1 (Positive: 0; Negative: 1; Trend: 0) | ||
Source | Literature |