chr12:68552522:T>A Detail (hg19) (IFNG)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:68,552,522-68,552,522 |
| hg38 | chr12:68,158,742-68,158,742 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000619.2:c.115-483A>T | |
| Ensemble | ENST00000229135.4:c.115-483A>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.107 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| 0.127 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| 0.001 | schizophrenia | This study aimed at investigating the association between schizophrenia suscepti... | BeFree | 24065520 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| <0.001 | Classical Hodgkin's Lymphoma | We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs... | BeFree | 24008079 | Detail |
| 0.003 | bronchiolitis | IL10 rs1800896, IFNG rs2430561, and IL18 rs1872387 polymorphims and their associ... | BeFree | 24167151 | Detail |
| <0.001 | Acute Q fever | Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 ... | BeFree | 25577174 | Detail |
| <0.001 | malaria | The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 ... | BeFree | 25445652 | Detail |
| 0.147 | rheumatoid arthritis | Analysis of the interferon gamma (rs2430561, +874T/A) functional gene variant in... | BeFree | 23077565 | Detail |
| <0.001 | liver carcinoma | Combined analysis using the genotype of rs2430561 and the number of microsatelli... | BeFree | 23803376 | Detail |
| 0.092 | Mycobacterium Infections | Previous studies identified the variant IFNG +874A/T (rs2430561) in the first in... | BeFree | 24389160 | Detail |
| 0.103 | tuberculosis | Given its key role in the control of tuberculosis (TB), in the present article w... | BeFree | 21332391 | Detail |
| 0.103 | tuberculosis | Previous studies identified the variant IFNG +874A/T (rs2430561) in the first in... | BeFree | 24389160 | Detail |
| <0.001 | liver carcinoma | Combined analysis using the genotype of rs2430561 and the number of microsatelli... | BeFree | 24719951 | Detail |
| 0.009 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.033 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.005 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.010 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.098 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.183 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.422 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.003 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.034 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.144 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.008 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.130 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.187 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.012 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.004 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.131 | ulcerative colitis | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| <0.001 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.009 | Crohn Disease | Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... | BeFree | 24776844 | Detail |
| 0.011 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.003 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.019 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.004 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.008 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.003 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| This study aimed at investigating the association between schizophrenia susceptibility and selected ... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| We investigated whether selected germline SNPs in IL10 (rs1800890, rs1800896, rs1800871, rs1800872),... | DisGeNET | Detail |
| IL10 rs1800896, IFNG rs2430561, and IL18 rs1872387 polymorphims and their associations with asthma a... | DisGeNET | Detail |
| Single nucleotide polymorphisms (SNPs) in the IFNG (rs2430561/rs1861493), STAT1 (rs1914408), and VDR... | DisGeNET | Detail |
| The TA11CAG haplotype (rs2069705 T/C, rs2430561 A/T, rs3138557 (CA)n, rs2069718 T/C, rs2069727 A/G, ... | DisGeNET | Detail |
| Analysis of the interferon gamma (rs2430561, +874T/A) functional gene variant in relation to the pre... | DisGeNET | Detail |
| Combined analysis using the genotype of rs2430561 and the number of microsatellites revealed that th... | DisGeNET | Detail |
| Previous studies identified the variant IFNG +874A/T (rs2430561) in the first intron of the gene in ... | DisGeNET | Detail |
| Given its key role in the control of tuberculosis (TB), in the present article we have investigated ... | DisGeNET | Detail |
| Previous studies identified the variant IFNG +874A/T (rs2430561) in the first intron of the gene in ... | DisGeNET | Detail |
| Combined analysis using the genotype of rs2430561 and the number of microsatellites revealed that th... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2430561 dbSNP
- Genome
- hg19
- Position
- chr12:68,552,522-68,552,522
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs2430561
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1068
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1790
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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