chr2:210477682:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:211,342,406-211,543,831 |
| hg38 | chr2:210,477,682-210,679,107 |
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 | Infection by Cryptococcus neoformans | NA | BeFree | Detail | |
| 0.080 | Diabetes Mellitus, Experimental | NA | RGD | Detail | |
| <0.001 | Down syndrome | NA | BeFree | Detail | |
| 0.002 | epilepsy | NA | GAD | Detail | |
| 0.080 | Fatty Liver | NA | RGD | Detail | |
| 0.080 | Fetal Growth Retardation | NA | RGD | Detail | |
| 0.080 | Hepatitis, Animal | NA | RGD | Detail | |
| <0.001 | Herpes zoster disease | NA | BeFree | Detail | |
| 0.083 | Hypertensive disease | NA | LHGDN,RGD | Detail | |
| 0.003 | pulmonary hypertension | NA | BeFree,GAD | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| 0.200 | Liver Cirrhosis, Experimental | NA | CTD_human,RGD | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.080 | Liver Neoplasms, Experimental | NA | RGD | Detail | |
| 0.122 | Fibrinogen Adverse Event | [A genome-wide survey of the human genome identifies novel loci related to commo... | GAD | 20031577 | Detail |
| <0.001 | Mental Retardation | Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is an inborn error of... | BeFree | 26059772 | Detail |
| 0.080 | obesity | NA | RGD | Detail | |
| 0.120 | persistent fetal circulation syndrome | NA | CTD_human | Detail | |
| 0.120 | Precancerous Conditions | NA | CTD_human | Detail | |
| 0.002 | schizophrenia | NA | GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| 0.002 | Vascular Diseases | NA | GAD | Detail | |
| 0.080 | Liver failure | NA | RGD | Detail | |
| <0.001 | Chronic pain | NA | BeFree | Detail | |
| 0.002 | Premature Birth | NA | GAD | Detail | |
| <0.001 | Urea Cycle Disorders, Inborn | Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a ra... | BeFree | 25410056 | Detail |
| 0.122 | Hyperammonemia | NA | CTD_human,GAD | Detail | |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| 0.120 | Endotoxemia | NA | CTD_human | Detail | |
| 0.006 | Necrotizing Enterocolitis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Varicella zoster | NA | BeFree | Detail | |
| <0.001 | Cardiac defects | NA | BeFree | Detail | |
| 0.561 | Carbamoyl-Phosphate Synthase I Deficiency Disease | The presence of carbamoyl phosphate synthase I (CPS1), a target of SIRT5, was in... | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT | 23978077 | Detail |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| 0.002 | Creatinine finding | NA | GAD | Detail | |
| 0.120 | Chronic Kidney Diseases | NA | GWASCAT | Detail | |
| 0.122 | Fibrinogen Adverse Event | NA | GAD,GWASCAT | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| 0.120 | Alveolar capillary dysplasia | NA | CTD_human | Detail | |
| 0.122 | Fibrinogen Adverse Event | Novel loci, including those related to Crohn disease, psoriasis, and inflammatio... | GWASCAT | 20031577 | Detail |
| 0.120 | Chronic Kidney Diseases | Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,9... | GWASCAT | 20383146 | Detail |
| 0.080 | Acidosis | NA | RGD | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| [A genome-wide survey of the human genome identifies novel loci related to common chronic inflammato... | DisGeNET | Detail |
| Carbamoyl phosphate synthetase 1 (CPS1) deficiency (CPS1D) is an inborn error of the urea cycle havi... | 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 |
| NA | DisGeNET | Detail |
| Carbamoyl phosphate synthetase 1 (CPS1) deficiency due to CPS1 mutations is a rare autosomal-recessi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The presence of carbamoyl phosphate synthase I (CPS1), a target of SIRT5, was investigated by immuno... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a g... | DisGeNET | Detail |
| Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication sampl... | 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
- rs7422339 dbSNP
- Genome
- hg38
- Position
- chr2:210,477,682-210,679,107
- Variant Type
- snv
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