SNP Report
Name | rs324420 dbSNP Ensembl | ||
---|---|---|---|
Location | 1:46405089 - 46405089(+) | ||
Variant Seq | A | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.261581 | ||
Annotation | missense_variant; non_coding_transcript_exon_variant; upstream_gene_variant; non_coding_transcript_variant | ||
Variant Effect | missense_variant(ENST00000243167); non_coding_transcript_exon_variant(ENST00000493735, ENST00000468718); upstream_gene_variant(ENST00000484697, ENST00000493636, ENST00000489366); non_coding_transcript_variant(ENST00000493735, ENST00000468718) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000243167) | ||
PolyPhen Annotation | probably_damaging | ||
PolyPhen Variant Effect | probably_damaging(ENST00000243167) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | TF binding region | ||
Chromatin State | Weak transcription;Enhancers;Strong transcription;Genic enhancers | ||
No. of Marker's Association Results | 5 (Positive: 1; Negative: 4; 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.