chr2:37344630:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:37,571,773-37,600,465 |
| hg38 | chr2:37,344,630-37,373,322 |
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 | squamous cell carcinoma | NA | BeFree | Detail | |
| <0.001 | hemophilia B | NA | BeFree | Detail | |
| <0.001 | Congenital chromosomal disease | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Presenile dementia | NA | BeFree | Detail | |
| <0.001 | Dermatitis, Atopic | NA | BeFree | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| <0.001 | Eczema | NA | BeFree | Detail | |
| <0.001 | Yolk Sac Tumor | NA | BeFree | Detail | |
| <0.001 | Giant Cell Tumors | NA | BeFree | Detail | |
| 0.001 | granulosa cell tumor | NA | BeFree | Detail | |
| <0.001 | Graves Disease | NA | BeFree | Detail | |
| <0.001 | Huntington disease | siRNA screen identifies QPCT as a druggable target for Huntington's disease. | BeFree | 25848931 | Detail |
| <0.001 | leukemia | NA | BeFree | Detail | |
| 0.120 | chronic lymphocytic leukemia | NA | CTD_human | Detail | |
| <0.001 | Lupus Erythematosus, Systemic | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| 0.120 | melanoma | NA | BeFree,CTD_human | Detail | |
| <0.001 | Myotonic dystrophy | NA | BeFree | Detail | |
| <0.001 | neuroblastoma | NA | BeFree | Detail | |
| 0.003 | osteoporosis | NA | LHGDN | Detail | |
| <0.001 | Pleural effusion disorder | NA | BeFree | Detail | |
| <0.001 | psoriasis | NA | BeFree | Detail | |
| 0.120 | schizophrenia | NA | BeFree,GWASCAT | Detail | |
| <0.001 | seminoma | NA | BeFree | Detail | |
| <0.001 | Septicemia | NA | BeFree | Detail | |
| <0.001 | Disorders of Sex Development | NA | BeFree | Detail | |
| <0.001 | teratoma | NA | BeFree | Detail | |
| <0.001 | vitiligo | NA | BeFree | Detail | |
| 0.120 | Dermatitis, Allergic Contact | NA | CTD_human | Detail | |
| 0.002 | Germ cell tumor | NA | BeFree | Detail | |
| <0.001 | embryonal carcinoma | NA | BeFree | Detail | |
| <0.001 | germinoma | Regardless of the mutation status or mRNA expression, the KIT protein was expres... | BeFree | 24452629 | Detail |
| <0.001 | Sepsis | NA | BeFree | Detail | |
| <0.001 | parathyroid adenoma | NA | BeFree | Detail | |
| <0.001 | Tyrosinemias | NA | BeFree | Detail | |
| <0.001 | Tumor necrosis | NA | BeFree | Detail | |
| <0.001 | Spermatocytic seminoma | NA | BeFree | Detail | |
| <0.001 | Impaired cognition | NA | BeFree | Detail | |
| <0.001 | Congenital Myotonic Dystrophy | NA | BeFree | Detail | |
| <0.001 | Trisomy 12 | NA | BeFree | Detail | |
| <0.001 | endometrial carcinoma | NA | BeFree | Detail | |
| <0.001 | dementia | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Central neuroblastoma | NA | BeFree | Detail | |
| <0.001 | Pineal germinoma | Regardless of the mutation status or mRNA expression, the KIT protein was expres... | BeFree | 24452629 | Detail |
| <0.001 | ovarian neoplasm | NA | BeFree | Detail | |
| <0.001 | Generalized vitiligo | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | NA | BeFree | Detail | |
| <0.001 | coronary artery disease | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | A three SNP haplotype consisting of alleles GCT from SNPs rs7452939, rs6903874 a... | BeFree | 17097106 | Detail |
| 0.120 | schizophrenia | A three SNP haplotype consisting of alleles GCT from SNPs rs7452939, rs6903874 a... | BeFree | 17097106 | Detail |
| <0.001 | adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | NA | BeFree | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| <0.001 | Behcet Syndrome | NA | BeFree | Detail | |
| <0.001 | bipolar disorder | NA | BeFree | Detail | |
| <0.001 | mucinous adenocarcinoma | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
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
- rs7452939 dbSNP
- Genome
- hg38
- Position
- chr2:37,344,630-37,373,322
- Variant Type
- snv
Genome browser