chr6:130458078:C>A Detail (hg19) (L3MBTL3)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr6:130,458,078-130,458,078 |
hg38 | chr6:130,136,933-130,136,933 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_032438.2:c.2200-2677C>A | |
NM_001007102.2:c.2125-2677C>A | ||
Ensemble | ENST00000361794.7:c.2200-2677C>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.710 | |
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 |
---|---|---|---|---|---|
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
0.341 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs4897366 dbSNP
- Genome
- hg19
- Position
- chr6:130,458,078-130,458,078
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- A
- 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))
- rs4897366
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7097
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11894
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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