SMAD9 SMAD family member 9
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 0 | 16 |
| Likely pathogenic | 0 | 8 |
| Benign | 8 | 48 |
| Likely benign | 0 | 128 |
| confers sensitivity | 0 | 2 |
| Conflicting classifications of pathogenicity | 0 | 12 |
| Uncertain significance | 0 | 120 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
50 |
 |
256 |
 |
4 |
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
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| Variant name | Gene | AA change | CDS | Japanese frequency |
TogoVar | MGeND | Genome | ClinVar | CIViC evidence | DisGeNET entry | COSMIC occurrence |
Prediction | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | Entry | Origin | Annotation | |||||||||||
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MGeND data only
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| Name | MGeND | Type | Genome | Size | Chromosome | Start | Stop | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | ||||||||||||||
Search Word
| Target data | : |
MGeND data only
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| Name | MGeND | Type | Genome | Gene symbol | Chromosome | Genomic start | Genomic stop | Strand | Ref | Alt | ClinVar | Origin | Entry | CIViC evidence | DisGeNET entry | |||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Entry | Origin | Type | Annotation | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | MADH6 |
| SYNONYM | MADH9 |
| SYNONYM | PPH2 |
| SYNONYM | SMAD8 |
| SYNONYM | SMAD8/9 |
| SYNONYM | SMAD8A |
| SYNONYM | SMAD8B |
| MIM | 603295 OMIM |
| HGNC | HGNC:6774 HGNC |
| Ensembl | ENSG00000120693 Ensembl |
| AllianceGenome | HGNC:6774 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000379826.5 | hg38 | chr13 | 36,844,831 | 36,920,238 | 75,408 |
| ENST00000715264.1 | hg38 | chr13 | 36,844,831 | 36,920,257 | 75,427 |
| ENST00000350148.10 | hg38 | chr13 | 36,848,070 | 36,920,238 | 72,169 |
| ENST00000379826.5 | hg19 | chr13 | 37,418,968 | 37,494,375 | 75,408 |
| ENST00000715264.1 | hg19 | chr13 | 37,418,968 | 37,494,394 | 75,427 |
| ENST00000350148.10 | hg19 | chr13 | 37,422,207 | 37,494,375 | 72,169 |
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