chr2:43721508:C>T Detail (hg19) (THADA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:43,721,508-43,721,508 |
| hg38 | chr2:43,494,369-43,494,369 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001083953.1:c.3744+4464G>A | |
| NM_022065.4:c.3744+4464G>A | ||
| Ensemble | ENST00000405006.8:c.3744+4464G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.344 | |
| 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.123 | polycystic ovary syndrome | Genome-wide association study identifies susceptibility loci for polycystic ovar... | GWASCAT | 21151128 | Detail |
| 0.123 | polycystic ovary syndrome | [Genome-wide association study identifies susceptibility loci for polycystic ova... | GAD | 21151128 | Detail |
| <0.001 | Ovarian Diseases | In a previous genome-wide association study, the SNP variants rs13429458, rs1247... | BeFree | 23208300 | Detail |
| 0.003 | hyperandrogenism | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | anovulation | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | hyperandrogenism | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | hyperandrogenism | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | anovulation | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| 0.007 | hyperandrogenism | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | hyperandrogenism | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | anovulation | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | anovulation | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
| <0.001 | anovulation | After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotr... | BeFree | 25586784 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromo... | DisGeNET | Detail |
| [Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chrom... | DisGeNET | Detail |
| In a previous genome-wide association study, the SNP variants rs13429458, rs12478601, rs2479106, rs1... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
| After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs12478601 dbSNP
- Genome
- hg19
- Position
- chr2:43,721,508-43,721,508
- 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))
- rs12478601
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3442
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5769
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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