chr12:40227006:C>G Detail (hg38) (LRRK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:40,620,808-40,620,808 View the variant detail on this assembly version. |
| hg38 | chr12:40,227,006-40,227,006 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_198578.3:c.237+1366C>G | |
| Ensemble | ENST00000298910.12:c.237+1366C>G | |
| ENST00000343742.6:c.237+1366C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.320 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.436 | Parkinson disease | [These data provide an insight into the genetics of Parkinsons disease and the m... | GAD | 21292315 | Detail |
| 0.436 | Parkinson disease | Imputation of sequence variants for identification of genetic risks for Parkinso... | GWASCAT | 21292315 | Detail |
| 0.436 | Parkinson disease | Comprehensive research synopsis and systematic meta-analyses in Parkinson's dise... | GWASCAT | 22438815 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| [These data provide an insight into the genetics of Parkinsons disease and the molecular cause of th... | DisGeNET | Detail |
| Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-... | DisGeNET | Detail |
| Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PD... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1491942 dbSNP
- Genome
- hg38
- Position
- chr12:40,227,006-40,227,006
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs1491942
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3203
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5368
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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