chr1:182573634:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:182,542,769-182,558,391 |
| hg38 | chr1:182,573,634-182,589,256 |
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 | Hereditary Nonpolyposis Colorectal Cancer | The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of dis... | BeFree | 17224235 | Detail |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.003 | Hereditary nonpolyposis colorectal neoplasms | NA | LHGDN | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| 0.062 | Malignant neoplasm of prostate | We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X... | BeFree | 16114055 | Detail |
| <0.001 | Dengue Fever | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
| 0.006 | Fatigue | NA | BeFree,LHGDN | Detail | |
| 0.007 | chronic fatigue syndrome | NA | BeFree,LHGDN | Detail | |
| <0.001 | hepatitis | NA | BeFree | Detail | |
| <0.001 | hepatitis A | NA | BeFree | Detail | |
| 0.003 | hepatitis C | NA | BeFree,GAD | Detail | |
| 0.002 | Inflammation | NA | GAD | Detail | |
| <0.001 | Myeloid Leukemia, Chronic | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| 0.002 | Chronic Obstructive Airway Disease | NA | GAD | Detail | |
| <0.001 | reticulosarcoma | NA | BeFree | Detail | |
| 0.120 | multiple sclerosis | NA | GWASCAT | Detail | |
| <0.001 | obesity | Thus, we evaluated the association of 17 single-nucleotide polymorphisms (SNPs) ... | BeFree | 25224558 | Detail |
| 0.003 | Pancreatic Neoplasm | NA | LHGDN | Detail | |
| 0.172 | Prostatic Neoplasms | NA | BeFree,CTD_human,GAD,LHGDN | Detail | |
| <0.001 | pyruvate carboxylase deficiency disease | NA | BeFree | Detail | |
| 0.003 | Virus Diseases | One of the key antiviral factors induced by IFNs, 2'-5' oligoadenylate synthase ... | BeFree | 25744296 | Detail |
| <0.001 | diffuse large B-cell lymphoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of gallbladder | NA | BeFree | Detail | |
| <0.001 | gallbladder carcinoma | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Hereditary pancreatitis | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of lung | NA | BeFree,GAD | Detail | |
| <0.001 | Carcinoma of ampulla of Vater | NA | BeFree | Detail | |
| <0.001 | Vesicular Stomatitis | Additionally, we found that 2'-5' oligoadenylate synthetase, which also works as... | BeFree | 25550087 | Detail |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Multiple polyps | NA | BeFree | Detail | |
| <0.001 | histiocytic sarcoma | NA | BeFree | Detail | |
| 0.003 | Malignant neoplasm of pancreas | NA | BeFree,GAD | Detail | |
| 0.062 | Malignant neoplasm of prostate | Given the dearth of gene mutations in prostate cancer, [1] ,[2] it is likely tha... | BeFree,GAD | 25532579 | Detail |
| 0.062 | Malignant neoplasm of prostate | The aim of this study was to analyze the use of 12 single-nucleotide polymorphis... | BeFree,GAD | 26251261 | Detail |
| <0.001 | Hepatitis C, Chronic | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of skin | NA | BeFree | Detail | |
| 0.062 | Malignant neoplasm of prostate | RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | BeFree | 17407163 | Detail |
| 0.364 | Prostate cancer, familial | The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated i... | BeFree | 15981205 | Detail |
| 0.364 | Prostate cancer, familial | Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R4... | BeFree | 18767027 | Detail |
| 0.014 | prostate carcinoma | There are questions regarding the prevalence of xenotropic murine leukemia virus... | BeFree | 20936978 | Detail |
| <0.001 | Multiple polyps | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.062 | Malignant neoplasm of prostate | To answer questions regarding the prevalence of XMRV in Iranian patients with pr... | BeFree | 23098452 | Detail |
| 0.062 | Malignant neoplasm of prostate | Although an increasing number of studies report an association between the RNASE... | BeFree | 15330212 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
| 0.014 | prostate carcinoma | RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | BeFree | 12415269 | Detail |
| 0.014 | prostate carcinoma | RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences ... | BeFree | 21656378 | Detail |
| <0.001 | colorectal carcinoma | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| <0.001 | Pancreatic carcinoma, familial | Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to... | BeFree | 15981205 | Detail |
| 0.062 | Malignant neoplasm of prostate | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| <0.001 | Carcinogenesis | Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to... | BeFree | 15981205 | Detail |
| 0.172 | Prostatic Neoplasms | A novel gammaretrovirus named xenotropic murine leukemia virus-related virus (XM... | BeFree | 19835577 | Detail |
| 0.172 | Prostatic Neoplasms | Identification of a novel Gammaretrovirus in prostate tumors of patients homozyg... | BeFree | 16609730 | Detail |
| 0.003 | Malignant neoplasm of breast | Lack of association between RNASEL Arg462Gln variant and the risk of breast canc... | BeFree | 15330212 | Detail |
| <0.001 | breast carcinoma | Lack of association between RNASEL Arg462Gln variant and the risk of breast canc... | BeFree | 15330212 | Detail |
| 0.014 | prostate carcinoma | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.014 | prostate carcinoma | Although an increasing number of studies report an association between the RNASE... | BeFree | 15330212 | Detail |
| 0.062 | Malignant neoplasm of prostate | There are questions regarding the prevalence of xenotropic murine leukemia virus... | BeFree | 20936978 | Detail |
| 0.003 | colorectal cancer | Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL a... | BeFree | 16054567 | Detail |
| 0.062 | Malignant neoplasm of prostate | Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identi... | BeFree | 21447170 | Detail |
| 0.062 | Malignant neoplasm of prostate | RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | BeFree | 12415269 | Detail |
| 0.014 | prostate carcinoma | To answer questions regarding the prevalence of XMRV in Iranian patients with pr... | BeFree | 23098452 | Detail |
| 0.014 | prostate carcinoma | RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | BeFree | 17407163 | Detail |
| 0.062 | Malignant neoplasm of prostate | This suggests that among Caucasians, positive association between higher trans-f... | BeFree | 17234723 | Detail |
| 0.014 | prostate carcinoma | Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identi... | BeFree | 21447170 | Detail |
| 0.014 | prostate carcinoma | This suggests that among Caucasians, positive association between higher trans-f... | BeFree | 17234723 | Detail |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| 0.014 | prostate carcinoma | Given the dearth of gene mutations in prostate cancer, [1] ,[2] it is likely tha... | BeFree | 25532579 | Detail |
| 0.014 | prostate carcinoma | The aim of this study was to analyze the use of 12 single-nucleotide polymorphis... | BeFree | 26251261 | Detail |
| <0.001 | breast carcinoma | Furthermore, ABCE1‑siRNA was found to inhibit proliferation and invasion in brea... | BeFree | 25070080 | Detail |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | skin carcinoma | NA | BeFree | Detail | |
| 0.003 | ovarian neoplasm | NA | LHGDN | Detail | |
| <0.001 | Metastatic Prostate Carcinoma | NA | BeFree | Detail | |
| 0.003 | West Nile viral infection | NA | BeFree,GAD | Detail | |
| <0.001 | Hereditary Nonpolyposis Colorectal Cancer | NA | BeFree | Detail | |
| 0.003 | colorectal cancer | NA | BeFree,GAD | Detail | |
| <0.001 | Benign Prostatic Hyperplasia | NA | BeFree | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Pancreatic carcinoma, familial | NA | BeFree | Detail | |
| <0.001 | Hereditary Prostate Carcinoma | NA | BeFree | Detail | |
| 0.005 | Infection | NA | LHGDN | Detail | |
| 0.002 | Alzheimer's disease | NA | GAD | Detail | |
| 0.002 | Biliary Tract Neoplasm | NA | GAD | Detail | |
| 0.002 | Malignant neoplasm of urinary bladder | NA | GAD | Detail | |
| 0.003 | Malignant neoplasm of breast | Furthermore, ABCE1‑siRNA was found to inhibit proliferation and invasion in brea... | BeFree,GAD | 25070080 | Detail |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | We have previously reported that the common, functionally different variants Arg... | BeFree | 17224235 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch ... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| We examined polymorphisms within ELAC2 (S217L, A541T, E622V), MSR1 (P275A, R293X, aIVS5-59c), and RN... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | 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 |
| Thus, we evaluated the association of 17 single-nucleotide polymorphisms (SNPs) in immune response g... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| One of the key antiviral factors induced by IFNs, 2'-5' oligoadenylate synthase (OAS), is a well-kno... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Additionally, we found that 2'-5' oligoadenylate synthetase, which also works as a virus recognition... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the dearth of gene mutations in prostate cancer, [1] ,[2] it is likely that genomic rearrangem... | DisGeNET | Detail |
| The aim of this study was to analyze the use of 12 single-nucleotide polymorphisms in genes ELAC2, R... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | DisGeNET | Detail |
| The RNASEL (encoding ribonuclease L) gene Glu265X mutation has been implicated in familial prostate ... | DisGeNET | Detail |
| Genotyping of HPC2/ELAC2 variants (S217L, A541T), along with RNASEL variants (R462Q and E541D) was c... | DisGeNET | Detail |
| There are questions regarding the prevalence of xenotropic murine leukemia virus-related virus (XMRV... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| To answer questions regarding the prevalence of XMRV in Iranian patients with prostate cancer and it... | DisGeNET | Detail |
| Although an increasing number of studies report an association between the RNASEL G1385A variant and... | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | DisGeNET | Detail |
| RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | DisGeNET | Detail |
| RNASEL Asp541Glu and Arg462Gln polymorphisms in prostate cancer risk: evidences from a meta-analysis... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis o... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Our results suggest that RNASEL variants Glu265X and Arg462Gln may contribute to the tumorigenesis o... | DisGeNET | Detail |
| A novel gammaretrovirus named xenotropic murine leukemia virus-related virus (XMRV) has been recentl... | DisGeNET | Detail |
| Identification of a novel Gammaretrovirus in prostate tumors of patients homozygous for R462Q RNASEL... | DisGeNET | Detail |
| Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | DisGeNET | Detail |
| Lack of association between RNASEL Arg462Gln variant and the risk of breast cancer. | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Although an increasing number of studies report an association between the RNASEL G1385A variant and... | DisGeNET | Detail |
| There are questions regarding the prevalence of xenotropic murine leukemia virus-related virus (XMRV... | DisGeNET | Detail |
| Arg462Gln sequence variation in the prostate-cancer-susceptibility gene RNASEL and age of onset of h... | DisGeNET | Detail |
| Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identified in prostate can... | DisGeNET | Detail |
| RNASEL Arg462Gln variant is implicated in up to 13% of prostate cancer cases. | DisGeNET | Detail |
| To answer questions regarding the prevalence of XMRV in Iranian patients with prostate cancer and it... | DisGeNET | Detail |
| RNASEL Arg462Gln polymorphism and prostate cancer in PLCO. | DisGeNET | Detail |
| This suggests that among Caucasians, positive association between higher trans-fatty acid consumptio... | DisGeNET | Detail |
| Xenotropic murine leukemia virus (MLV)-related virus (XMRV) was initially identified in prostate can... | DisGeNET | Detail |
| This suggests that among Caucasians, positive association between higher trans-fatty acid consumptio... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Given the dearth of gene mutations in prostate cancer, [1] ,[2] it is likely that genomic rearrangem... | DisGeNET | Detail |
| The aim of this study was to analyze the use of 12 single-nucleotide polymorphisms in genes ELAC2, R... | DisGeNET | Detail |
| Furthermore, ABCE1‑siRNA was found to inhibit proliferation and invasion in breast cancer cells, sig... | 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 |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Furthermore, ABCE1‑siRNA was found to inhibit proliferation and invasion in breast cancer cells, sig... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We have previously reported that the common, functionally different variants Arg72Pro in p53 and Arg... | 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
- rs34152967 dbSNP
- Genome
- hg38
- Position
- chr1:182,573,634-182,589,256
- Variant Type
- snv
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