SNP Report
Name | rs4633 dbSNP Ensembl | ||
---|---|---|---|
Location | 22:19962712 - 19962712(+) | ||
Variant Seq | T | ||
Ancestral Allele | C | ||
Ref Seq | C | ||
Minor Allele Frequence | 0.371605 | ||
Annotation | synonymous_variant; non_coding_transcript_exon_variant; upstream_gene_variant; NMD_transcript_variant; non_coding_transcript_variant | ||
Variant Effect | synonymous_variant(ENST00000449653, ENST00000361682, ENST00000403710, ENST00000406520, ENST00000407537, ENST00000403184, ENST00000412786, ENST00000207636); non_coding_transcript_exon_variant(ENST00000467943); upstream_gene_variant(ENST00000493893, ENST00000428707, ENST00000585066); NMD_transcript_variant(ENST00000207636); non_coding_transcript_variant(ENST00000467943) | ||
SIFT Annotation | tolerated | ||
SIFT Variant Effect | tolerated(ENST00000406520, ENST00000407537, ENST00000403710, ENST00000403184, ENST00000207636, ENST00000361682, ENST00000412786) | ||
PolyPhen Annotation | benign | ||
PolyPhen Variant Effect | benign(ENST00000406520, ENST00000407537, ENST00000403710, ENST00000403184, ENST00000207636, ENST00000361682, ENST00000412786) | ||
rSNP? | No Link in rVarBase | ||
Related Regulatory Elements | N.A. | ||
Chromatin State | N.A. | ||
No. of Marker's Association Results | 4 (Positive: 3; 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.