chr3:49396360:T>C Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:49,396,360-49,396,360 |
| hg38 | chr3:49,358,927-49,358,927 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:0.075 | |
| 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 | Kashin-Beck Disease | In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs180066... | BeFree | 24058403 | Detail |
| <0.001 | Kashin-Beck Disease | In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs180066... | BeFree | 24058403 | Detail |
| <0.001 | Kashin-Beck Disease | Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed... | BeFree | 24058403 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), Tr... | DisGeNET | Detail |
| In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), Tr... | DisGeNET | Detail |
| Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant assoc... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3811699 dbSNP
- Genome
- hg19
- Position
- chr3:49,396,360-49,396,360
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs3811699
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0748
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1254
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser