chr4:148393664:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:148,393,664-148,393,664 |
| hg38 | chr4:147,472,512-147,472,512 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.301 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Coronary Arteriosclerosis | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | Coronary heart disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | coronary artery disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| 0.246 | coronary artery disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| 0.121 | Coronary heart disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | Coronary heart disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| 0.002 | Coronary Arteriosclerosis | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | coronary artery disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | rheumatoid arthritis | Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ... | BeFree | 24795506 | Detail |
| <0.001 | Coronary Arteriosclerosis | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| 0.248 | coronary artery disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| <0.001 | Coronary Arteriosclerosis | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
| 0.122 | Coronary heart disease | Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 ... | BeFree | 24795506 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Our results do not confirm association between ABO rs579459, PPAP2B rs17114036, ADAMTS7 rs3825807, P... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
| Recent studies have identified the ABO rs579459, PPAP2B rs17114036, and ADAMTS7 rs3825807 polymorphi... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1878406 dbSNP
- Genome
- hg19
- Position
- chr4:148,393,664-148,393,664
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1878406
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3014
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5052
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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