chr4:90797301:A>G Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:90,797,301-90,797,301 |
hg38 | chr4:89,876,150-89,876,150 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:0.329 | |
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 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.006 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | Diabetes Mellitus, Insulin-Dependent | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.121 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | ulcerative colitis | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.123 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
<0.001 | progressive supranuclear palsy | We identified novel cisSNP/transcript associations for human disease-associated ... | BeFree | 22685416 | Detail |
0.005 | Parkinson disease | [Genome-wide association study reveals genetic risk underlying Parkinson\'s dise... | GAD | 19915575 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
We identified novel cisSNP/transcript associations for human disease-associated variants, including ... | DisGeNET | Detail |
[Genome-wide association study reveals genetic risk underlying Parkinson\'s disease.] | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6532197 dbSNP
- Genome
- hg19
- Position
- chr4:90,797,301-90,797,301
- 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))
- rs6532197
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3289
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5512
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser