chr7:23594050:C>T Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:23,594,050-23,594,050 |
hg38 | chr7:23,554,431-23,554,431 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:0.403 | |
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 |
---|---|---|---|---|---|
0.003 | Diabetes Mellitus, Non-Insulin-Dependent | We analysed here the association between T2D (and related traits) and rs4402960 ... | BeFree | 20627640 | Detail |
0.003 | Diabetes Mellitus, Non-Insulin-Dependent | We analysed here the association between T2D (and related traits) and rs4402960 ... | BeFree | 20627640 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... | DisGeNET | Detail |
We analysed here the association between T2D (and related traits) and rs4402960 and rs1470579 in IGF... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs6949019 dbSNP
- Genome
- hg19
- Position
- chr7:23,594,050-23,594,050
- 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))
- rs6949019
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4025
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6745
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16756
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