chr6:31739948:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,707,725-31,730,453 |
| hg38 | chr6:31,739,948-31,762,676 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
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 | common variable immunodeficiency | NA | BeFree | Detail | |
| 0.003 | male infertility | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Non-Hodgkin | NA | BeFree | Detail | |
| 0.003 | oligospermia | NA | BeFree,GAD | Detail | |
| <0.001 | Lymphoma, Large-Cell, Follicular | NA | BeFree | Detail | |
| 0.005 | Ovarian Failure, Premature | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Immunoglobulin A deficiency (disorder) | NA | BeFree,GAD | Detail | |
| 0.002 | Malignant neoplasm of lung | NA | GAD | Detail | |
| 0.005 | azoospermia | One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... | BeFree | 22594646 | Detail |
| 0.003 | oligospermia | One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059... | BeFree | 22594646 | Detail |
| 0.002 | Spontaneous abortion | NA | GAD | Detail | |
| 0.002 | rheumatoid arthritis | NA | GAD | Detail | |
| 0.005 | azoospermia | NA | BeFree,GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... | DisGeNET | Detail |
| One intronic SNP in MLH1 (rs4647269) and two non-synonymous SNPs in PMS2 (rs1059060, Ser775Asn) and ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs1059060 dbSNP
- Genome
- hg38
- Position
- chr6:31,739,948-31,762,676
- Variant Type
- snv
Genome browser