chr1:25362249:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:25,688,740-25,756,683 |
| hg38 | chr1:25,362,249-25,430,192 |
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 | Erythroblastosis, Fetal | NA | BeFree | Detail | |
| 0.002 | Liver Cirrhosis, Alcoholic | NA | GAD | Detail | |
| 0.002 | malaria | NA | GAD | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| 0.002 | Rh isoimmunization | NA | GAD | Detail | |
| <0.001 | melanoma | We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; N... | BeFree | 24170137 | Detail |
| <0.001 | Hemolytic disease of fetus OR newborn due to RhD isoimmunization | NA | BeFree | Detail | |
| 0.120 | Rh deficiency syndrome | NA | ORPHANET | Detail | |
| <0.001 | SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder) | NA | BeFree | Detail | |
| 0.120 | Rh-Null Disease, Amorph Type | NA | CLINVAR | Detail | |
| 0.120 | Anemia, Hemolytic, Congenital | NA | CTD_human | Detail | |
| 0.001 | Anemia, Sickle Cell | NA | BeFree | Detail | |
| 0.002 | blood group incompatibility | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of skin | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | 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
- rs386505388 dbSNP
- Genome
- hg38
- Position
- chr1:25,362,249-25,430,192
- Variant Type
- snv
Genome browser