chr9:28414341:A>G Detail (hg38) (LINGO2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:28,414,339-28,414,339 View the variant detail on this assembly version. |
| hg38 | chr9:28,414,341-28,414,341 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001258282.1:c.-278-41473T>C | |
| NM_152570.2:c.-278-41473T>C | ||
| Ensemble | ENST00000379992.6:c.-278-41473T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.197 | |
| 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 |
|---|---|---|---|---|---|
| 0.014 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.121 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.150 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.121 | obesity | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... | GWASCAT | 23563607 | Detail |
| 0.162 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.021 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.791 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.126 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10968576 dbSNP
- Genome
- hg38
- Position
- chr9:28,414,341-28,414,341
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs10968576
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1967
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3296
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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