Gene : OR51B5
Clinical Annotations and Linkouts
Clinical annotations are based on clinvar version 2019-03-05.
Computation Prediction and Annotation
SIFT : | - |
Polyphen2 HDIV : | - |
Polyphen2 HVAR : | - |
LRT : | - |
MutationTaster : | - |
MutationAssessor : | - |
FATHMM : | - |
PROVEAN : | - |
VEST3 score : | - |
VEST3 rankscore : | - |
MetaSVM : | - |
MetaLR : | - |
M-CAP : | - |
REVEL score : | - |
REVEL rankscore : | - |
MutPred score : | - |
MutPred rankscore : | - |
CADD : | - |
DANN score : | - |
DANN rankscore : | - |
fathmm MKL coding : | - |
Eigen coding or noncoding : | - |
Eigen raw : | - |
Eigen PC raw : | - |
GenoCanyon score : | - |
GenoCanyon score rankscore : | - |
integrated fitCons score : | - |
integrated fitCons score rankscore : | - |
integrated confidence value : | - |
GERP++ RS : | - |
GERP++_RS rankscore : | - |
phyloP100way vertebrate : | - |
phyloP100way vertebrate rankscore : | - |
phyloP20way mammalian : | - |
phyloP20way mammalian rankscore : | - |
phastCons100way vertebrate : | - |
phastCons100way vertebrate rankscore : | - |
phastCons20way mammalian : | - |
phastCons20way mammalian rankscore : | - |
SiPhy 29way logOdds : | - |
SiPhy 29way logOdds rankscore : | - |
IndiGen Allele Frequency
IndiGen Frequencies
- Allele Count : 1125
- Allele Frequency : 0.5488
- Allele Number : 2050
- Homozygous : 298
- Heterozygous : 529
Global Allele Frequencies
All | AFR | AMR | EAS | SAS | EUR | ||||
---|---|---|---|---|---|---|---|---|---|
0.596246 | 0.5696 | 0.7233 | 0.5089 | 0.5419 | 0.6839 |
All | AFR | AMR | EAS | SAS | AMI | ASJ | FIN | NFE | OTH |
---|---|---|---|---|---|---|---|---|---|
0.6516 | 0.5976 | 0.6988 | 0.5345 | 0.5646 | 0.7506 | 0.6373 | 0.7153 | 0.6753 | 0.6558 |
All | NWA | NEA | AP | Israel | SD | TP | CA | ||
---|---|---|---|---|---|---|---|---|---|
- | - | - | - | - | - | - | - |
All |
---|
- |
Update on Clinical Annotations
If you would like to be updated on the classification of the variant as per the ACMG & AMP guidelines, please access and share the phenotypes after login.
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