SNP Report
Name | rs1006737 dbSNP Ensembl | ||
---|---|---|---|
Location | 12:2236129 - 2236129(+) | ||
Variant Seq | A | ||
Ancestral Allele | G | ||
Ref Seq | G | ||
Minor Allele Frequence | 0.301518 | ||
Annotation | intron_variant | ||
Variant Effect | intron_variant(ENST00000399617, LRG_334t4, ENST00000399606, ENST00000399597, ENST00000327702, LRG_334t3, ENST00000402845, ENST00000399637, ENST00000399603, ENST00000399649, ENST00000344100, ENST00000335762, ENST00000399638, ENST00000347598, ENST00000399641, ENST00000399621, ENST00000480911, LRG_334t1, ENST00000399629, ENST00000399634, ENST00000399644, LRG_334t2, ENST00000406454, ENST00000399595, ENST00000399655, ENST00000399601, ENST00000399591) | ||
SIFT Annotation | deleterious; tolerated | ||
SIFT Variant Effect | deleterious(ENST00000399641, ENST00000344100, ENST00000399603, ENST00000399644, ENST00000399655, ENST00000399621, ENST00000399595, ENST00000402845, ENST00000399649, ENST00000399638, ENST00000399591, ENST00000399634, LRG_334t3, ENST00000399629, LRG_334t2, ENST00000399637, ENST00000335762, ENST00000347598, ENST00000399606, ENST00000399617, ENST00000399597, LRG_334t4, LRG_334t1, ENST00000327702, ENST00000406454, ENST00000399601); tolerated(ENST00000480911) | ||
PolyPhen Annotation | benign; possibly_damaging; probably_damaging | ||
PolyPhen Variant Effect | benign(ENST00000399641, ENST00000399603, ENST00000399595, ENST00000399649, ENST00000399591, ENST00000399629, ENST00000399617, ENST00000399597, LRG_334t4, ENST00000327702, ENST00000406454, ENST00000399601); possibly_damaging(ENST00000480911, ENST00000399644, ENST00000402845, ENST00000399638, LRG_334t3, LRG_334t2, ENST00000335762, ENST00000347598, ENST00000399606); probably_damaging(ENST00000344100, ENST00000399655, ENST00000399621, ENST00000399634, ENST00000399637, LRG_334t1) | ||
rSNP? | Yes Link in rVarBase | ||
Related Regulatory Elements | n/a | ||
Chromatin State | Weak transcription;Enhancers | ||
No. of Marker's Association Results | 2 (Positive: 0; Negative: 2; 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.