chr2:100820139:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr2:101,436,601-101,613,291 |
| hg38 | chr2:100,820,139-100,996,829 |
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 |
|---|---|---|---|---|---|
| 0.003 | Colorectal Neoplasms | NA | LHGDN | Detail | |
| 0.002 | Mental Depression | NA | GAD | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Creutzfeldt-Jakob disease | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | Lack of association of the NPAS2 gene Ala394Thr polymorphism (rs2305160:G>A) wit... | BeFree | 25227809 | Detail |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| 0.005 | Lymphoma, Non-Hodgkin | NA | GAD,LHGDN | Detail | |
| 0.002 | Prostatic Neoplasms | NA | GAD | Detail | |
| <0.001 | restless legs syndrome | We investigated whether CLOCK and NPAS2 gene polymorphisms are associated with R... | BeFree | 24824748 | Detail |
| <0.001 | schizoaffective disorder | NA | BeFree | Detail | |
| 0.003 | schizophrenia | Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphism... | BeFree,GAD | 24824748 | Detail |
| 0.004 | seasonal affective disorder | NA | BeFree,LHGDN | Detail | |
| 0.002 | breast carcinoma | However, when accounting for potential effect modification, rs23051560 (Ala394Th... | BeFree | 22473669 | Detail |
| 0.009 | Malignant neoplasm of breast | However, when accounting for potential effect modification, rs23051560 (Ala394Th... | BeFree | 22473669 | Detail |
| 0.005 | Malignant neoplasm of prostate | NA | BeFree,GAD | Detail | |
| 0.002 | Metabolic syndrome X | NA | GAD | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | NA | BeFree | Detail | |
| 0.002 | Sleep Disorders | NA | GAD | Detail | |
| <0.001 | bipolar I disorder | NA | BeFree | Detail | |
| <0.001 | winter depression | NA | BeFree | Detail | |
| 0.002 | breast carcinoma | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
| 0.009 | Malignant neoplasm of breast | In women with three consecutive night shifts, a reduced risk of breast cancer wa... | BeFree | 23822714 | Detail |
| 0.003 | Mammary Neoplasms | NA | LHGDN | Detail | |
| <0.001 | Glioblastoma multiforme | NA | BeFree | Detail | |
| <0.001 | Azoospermia, Nonobstructive | Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family w... | BeFree | 25956372 | Detail |
| 0.123 | autistic disorder | NA | BeFree,CTD_human,GAD | Detail | |
| 0.005 | bipolar disorder | NA | GAD | Detail | |
| 0.009 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Lack of association of the NPAS2 gene Ala394Thr polymorphism (rs2305160:G>A) with risk of chronic ly... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We investigated whether CLOCK and NPAS2 gene polymorphisms are associated with RLS in schizophrenic ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Association between restless legs syndrome and CLOCK and NPAS2 gene polymorphisms in schizophrenia. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| However, when accounting for potential effect modification, rs23051560 (Ala394Thr) in the largest ci... | DisGeNET | Detail |
| However, when accounting for potential effect modification, rs23051560 (Ala394Thr) in the largest ci... | 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 |
| In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... | DisGeNET | Detail |
| In women with three consecutive night shifts, a reduced risk of breast cancer was associated with ca... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive a... | 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
- rs131113549 dbSNP
- Genome
- hg38
- Position
- chr2:100,820,139-100,996,829
- Variant Type
- snv
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