chr3:169774313:C>T Detail (hg38) (MYNN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:169,492,101-169,492,101 View the variant detail on this assembly version. |
| hg38 | chr3:169,774,313-169,774,313 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_018657.4:c.18C>T | NP_061127.1:p.His6= |
| NR_033702.1:c.18C>T | ||
| NR_033703.1:c.18C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.661 |
| ToMMo:0.653 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.563 |
Prediction
ClinVar
| Clinical Significance |
association
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
association
|
2016-09-01 | no assertion criteria provided | Chronic osteomyelitis |
tested-inconclusive
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | multiple sclerosis | [Genetic risk and a primary role for cell-mediated immune mechanisms in multiple... | GAD | 21833088 | Detail |
| 0.027 | Carcinoma of bladder | These findings suggest that seven bladder cancer risk-associated variants (rs964... | BeFree | 24740636 | Detail |
| 0.120 | chronic lymphocytic leukemia | A genome-wide association study identifies multiple susceptibility loci for chro... | GWASCAT | 24292274 | Detail |
| 0.002 | Colorectal Neoplasms | [Meta-analysis of three genome-wide association studies identifies susceptibilit... | GAD | 20972440 | Detail |
| 0.120 | multiple myeloma | Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple mye... | GWASCAT | 23955597 | Detail |
| 0.122 | Malignant neoplasm of urinary bladder | Genome-wide association study identifies multiple loci associated with bladder c... | GWASCAT | 24163127 | Detail |
| 0.122 | multiple sclerosis | Genetic risk and a primary role for cell-mediated immune mechanisms in multiple ... | GWASCAT | 21833088 | Detail |
| 0.122 | celiac disease | Multiple common variants for celiac disease influencing immune gene expression. | GWASCAT | 20190752 | Detail |
| 0.107 | Malignant neoplasm of urinary bladder | These findings suggest that seven bladder cancer risk-associated variants (rs964... | BeFree | 24740636 | Detail |
| 0.122 | celiac disease | [Multiple common variants for celiac disease influencing immune gene expression.... | GAD | 20190752 | Detail |
| 0.120 | colorectal cancer | Meta-analysis of three genome-wide association studies identifies susceptibility... | GWASCAT | 20972440 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_018657.5(MYNN):c.18C>T (p.His6=) AND Chronic osteomyelitis | ClinVar | Detail |
| [Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.] | DisGeNET | Detail |
| These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7... | DisGeNET | Detail |
| A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leuk... | DisGeNET | Detail |
| [Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorecta... | DisGeNET | Detail |
| Common variation at 3q26.2, 6p21.33, 17p11.2 and 22q13.1 influences multiple myeloma risk. | DisGeNET | Detail |
| Genome-wide association study identifies multiple loci associated with bladder cancer risk. | DisGeNET | Detail |
| Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. | DisGeNET | Detail |
| Multiple common variants for celiac disease influencing immune gene expression. | DisGeNET | Detail |
| These findings suggest that seven bladder cancer risk-associated variants (rs9642880, rs2294008, rs7... | DisGeNET | Detail |
| [Multiple common variants for celiac disease influencing immune gene expression.] | DisGeNET | Detail |
| Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs10936599 dbSNP
- Genome
- hg38
- Position
- chr3:169,774,313-169,774,313
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 86.48
- Standard deviation of sample read depth (HGVD)
- 44.06
- Number of reference allele (HGVD)
- 819
- Number of alternative allele (HGVD)
- 1594
- Allele Frequency (HGVD)
- 0.6605884790716949
- Gene Symbol (HGVD)
- MYNN
- 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))
- rs10936599
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6527
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10939
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 4873
- East Asian Heterozygous Counts (ExAC)
- 2083
- East Asian Homozygous Counts (ExAC)
- 1395
- East Asian Allele Frequency (ExAC)
- 0.5634828862164662
- Chromosome Counts in All Race (ExAC)
- 121392
- Allele Counts in All Race (ExAC)
- 34204
- Heterozygous Counts in All Race (ExAC)
- 22268
- Homozygous Counts in All Race (ExAC)
- 5968
- Allele Frequency in All Race (ExAC)
- 0.2817648609463556
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