chr1:162060117:A>T Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:162,029,907-162,029,907 View the variant detail on this assembly version. |
| hg38 | chr1:162,060,117-162,060,117 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.311 | |
| 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 |
|---|---|---|---|---|---|
| 0.122 | Congenital long QT syndrome | Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 ... | BeFree | 22708720 | Detail |
| <0.001 | cardiac arrest | NOS1AP variants were significantly associated with the occurrence of symptoms (r... | BeFree | 19822806 | Detail |
| <0.001 | Congenital long QT syndrome | Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 ... | BeFree | 22708720 | Detail |
| <0.001 | cardiac event | Three NOS1AP marker SNPs (rs4657139, rs16847548, and rs10494366) were genotyped ... | BeFree | 20538168 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-... | DisGeNET | Detail |
| NOS1AP variants were significantly associated with the occurrence of symptoms (rs4657139, P=0.019; r... | DisGeNET | Detail |
| Screening the family members for three LQTS modifiers (rs4657139 and rs16847548 in NOS1AP and KCNE1-... | DisGeNET | Detail |
| Three NOS1AP marker SNPs (rs4657139, rs16847548, and rs10494366) were genotyped to assess the effect... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs4657139 dbSNP
- Genome
- hg38
- Position
- chr1:162,060,117-162,060,117
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs4657139
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3108
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5209
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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