chr16:50756540:G>T Detail (hg19) (NOD2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:50,756,540-50,756,540 |
| hg38 | chr16:50,722,629-50,722,629 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001293557.1:c.2722G>T | NP_001280486.1:p.Gly908Cys |
| NM_022162.2:c.2722G>T | NP_071445.1:p.Gly908Cys | |
| Ensemble | ENST00000300589.6:c.2722G>T | ENST00000300589.6:p.Gly908Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance | Conflicting classifications of pathogenicity |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Uncertain significance
|
2022-03-22 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
Conflicting interpretations of pathogenicity
|
2022-04-09 | criteria provided, conflicting interpretations | Blau syndrome |
germline
|
Detail |
|
Uncertain significance
|
2017-04-28 | criteria provided, single submitter | inflammatory bowel disease 1 |
germline
|
Detail |
Benign
|
2023-11-19 | criteria provided, single submitter | Blau syndrome,Regional enteritis |
germline
|
Detail |
|
Benign
|
2023-11-19 | criteria provided, single submitter | Blau syndrome,Regional enteritis |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.397 | Inflammatory Bowel Diseases | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... | BeFree | 22269043 | Detail |
| 0.340 | Inflammatory Bowel Diseases | In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs206... | BeFree | 22269043 | Detail |
| 0.327 | ulcerative colitis | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs... | BeFree | 21830272 | Detail |
| 0.254 | ulcerative colitis | Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs... | BeFree | 21830272 | Detail |
| 0.014 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
| 0.397 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
| 0.034 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.002 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.397 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.397 | Inflammatory Bowel Diseases | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
| 0.234 | ulcerative colitis | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
| 0.012 | Inflammatory Bowel Diseases | In all, 612 patients with well-characterised inflammatory bowel disease (252 Sco... | BeFree | 15190267 | Detail |
| 0.560 | Crohn Disease | A case-control study of NOD2 polymorphisms known to be associated with Crohn's d... | BeFree | 12115195 | Detail |
| 0.234 | ulcerative colitis | Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD... | BeFree | 21209938 | Detail |
| 0.005 | gastritis | We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD1... | BeFree | 20332463 | Detail |
| 0.234 | ulcerative colitis | We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients w... | BeFree | 16485124 | Detail |
| 0.560 | Crohn Disease | Three mutations (R702W, G908R, and 1007fs) within the CARD15 gene have been iden... | BeFree | 15527324 | Detail |
| 0.560 | Crohn Disease | A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and ... | BeFree | 15202784 | Detail |
| 0.397 | Inflammatory Bowel Diseases | In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, ... | BeFree | 17174426 | Detail |
| 0.560 | Crohn Disease | In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn dis... | BeFree | 17355968 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007... | BeFree | 15967635 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Two cohorts of consecutively identified patients referred to an inflammatory bow... | BeFree | 12198692 | Detail |
| 0.560 | Crohn Disease | We also show that the three main Crohn disease-associated mutants of NOD2 (1007f... | BeFree | 21690088 | Detail |
| <0.001 | Crohn Disease | In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn dis... | BeFree | 17355968 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G90... | BeFree | 12631669 | Detail |
| 0.020 | Inflammatory Bowel Diseases | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CA... | BeFree | 18756601 | Detail |
| <0.001 | Aggressive periodontitis, generalized | The mutant allele frequencies of the CARD15 variants were low in the generalized... | BeFree | 16965521 | Detail |
| 0.005 | colorectal carcinoma | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | BeFree | 17351900 | Detail |
| 0.560 | Crohn Disease | NOD2/CARD15 is involved in the innate immune response and three polymorphisms in... | BeFree | 19570052 | Detail |
| 0.026 | colorectal cancer | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to b... | BeFree | 15785318 | Detail |
| 0.560 | Crohn Disease | Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) ... | BeFree | 16133969 | Detail |
| <0.001 | Crohn Disease | CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three s... | BeFree | 12019468 | Detail |
| 0.026 | colorectal cancer | No evidence for association of NOD2 R702W and G908R with colorectal cancer. | BeFree | 17351900 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Ileal samples were prospectively collected from 18 nonsmoking CD patients not tr... | BeFree | 20155851 | Detail |
| <0.001 | Chronic inflammatory disorder | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to b... | BeFree | 15785318 | Detail |
| 0.141 | Inflammatory Bowel Diseases | To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CA... | BeFree | 18756601 | Detail |
| 0.005 | colorectal carcinoma | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to b... | BeFree | 15785318 | Detail |
| 0.014 | gastritis | We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD1... | BeFree | 20332463 | Detail |
| 0.560 | Crohn Disease | Sera from 303 patients were tested for antibodies to the Crohn's disease-related... | BeFree | 14762777 | Detail |
| 0.560 | Crohn Disease | Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to b... | BeFree | 15785318 | Detail |
| 0.560 | Crohn Disease | Three NOD2 polymorphisms (single nucleotide polymorphism [SNP]8 [2104C>T, Arg... | BeFree | 24345423 | Detail |
| 0.560 | Crohn Disease | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... | BeFree | 18680223 | Detail |
| 0.560 | Crohn Disease | CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg... | BeFree | 15168811 | Detail |
| 0.034 | ulcerative colitis | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... | BeFree | 18680223 | Detail |
| 0.560 | Crohn Disease | It has been shown previously that three nucleotide-binding oligomerization domai... | BeFree | 19748964 | Detail |
| <0.001 | Indeterminate colitis | We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients w... | BeFree | 16485124 | Detail |
| 0.183 | Crohn Disease | To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (... | BeFree | 18680223 | Detail |
| 0.560 | Crohn Disease | We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients w... | BeFree | 16485124 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are assoc... | BeFree | 17355968 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Unfortunately, even if the association between the three main CARD15 mutations (... | BeFree | 12840668 | Detail |
| 0.234 | ulcerative colitis | We investigated 198 sporadic CD patients, 46 probands with familial CD, 27 CD pr... | BeFree | 12631669 | Detail |
| 0.560 | Crohn Disease | Crohn's disease-associated NOD 2 variants (Arg702Trp and 3020insC) were found to... | BeFree | 22289211 | Detail |
| 0.017 | Crohn Disease | CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three s... | BeFree | 12019468 | Detail |
| 0.560 | Crohn Disease | Genomic DNA from 563 individuals (Crohn's disease: n = 205; ulcerative colitis: ... | BeFree | 17661913 | Detail |
| 0.148 | sarcoidosis | The aim of this work was to determine the frequencies of the three major NOD2/CA... | BeFree | 16315780 | Detail |
| 0.560 | Crohn Disease | In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, ... | BeFree | 17174426 | Detail |
| 0.560 | Crohn Disease | Particular mutations of the NOD2 gene are associated with Crohn's disease includ... | BeFree | 20646002 | Detail |
| 0.183 | Inflammatory Bowel Diseases | Ileal samples were prospectively collected from 18 nonsmoking CD patients not tr... | BeFree | 20155851 | Detail |
| 0.234 | ulcerative colitis | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... | BeFree | 23709157 | Detail |
| 0.560 | Crohn Disease | In the Dutch population, CARD15 G908R and L1007fs are associated with Crohn's di... | BeFree | 17489054 | Detail |
| 0.397 | Inflammatory Bowel Diseases | Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surg... | BeFree | 17278126 | Detail |
| 0.560 | Crohn Disease | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.560 | Crohn Disease | Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surg... | BeFree | 17278126 | Detail |
| 0.013 | ulcerative colitis | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.144 | ulcerative colitis | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.560 | Crohn Disease | An insertion mutation at nucleotide 3020 (3020insC) and a missense mutation G272... | BeFree | 12595906 | Detail |
| 0.005 | erythema nodosum | Such relationships were, however, detected for some individual extraintestinal m... | BeFree | 17206080 | Detail |
| 0.148 | sarcoidosis | Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as ... | BeFree | 16933467 | Detail |
| 0.001 | sarcoidosis | Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as ... | BeFree | 16933467 | Detail |
| 0.234 | ulcerative colitis | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.560 | Crohn Disease | Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), ... | BeFree | 23709157 | Detail |
| 0.034 | ulcerative colitis | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.012 | ulcerative colitis | Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307... | BeFree | 18942754 | Detail |
| 0.014 | sarcoidosis | Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as ... | BeFree | 16933467 | Detail |
| 0.234 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.560 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.368 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.033 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.371 | Crohn Disease | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
| 0.327 | ulcerative colitis | One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 u... | BeFree | 20082483 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND not provided | ClinVar | Detail |
| NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND Blau syndrome | ClinVar | Detail |
| NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND Inflammatory bowel disease 1 | ClinVar | Detail |
| NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND multiple conditions | ClinVar | Detail |
| NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) AND multiple conditions | ClinVar | Detail |
| In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... | DisGeNET | Detail |
| In genotype-association SNP analysis, all NOD2 SNPs (rs5743293, rs2066844, rs2066845) and the IL23r ... | DisGeNET | Detail |
| Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, ... | DisGeNET | Detail |
| Colon-only CD (n = 228) was compared with healthy controls: three of six UC SNPs (in MST1, HLA-DRA, ... | DisGeNET | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | DisGeNET | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
| In all, 612 patients with well-characterised inflammatory bowel disease (252 Scottish CD, 247 Scotti... | DisGeNET | Detail |
| A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268... | DisGeNET | Detail |
| Genomic DNA from 2700 Caucasians including 812 patients with Crohn's disease (CD), 442 patients with... | DisGeNET | Detail |
| We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and... | DisGeNET | Detail |
| We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease ... | DisGeNET | Detail |
| Three mutations (R702W, G908R, and 1007fs) within the CARD15 gene have been identified as independen... | DisGeNET | Detail |
| A frameshift mutation (Leu1007fsinsC) and two missense mutations (Gly908Arg and Arg702Trp) in the NO... | DisGeNET | Detail |
| In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously... | DisGeNET | Detail |
| In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn disease-associated muta... | DisGeNET | Detail |
| Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African... | DisGeNET | Detail |
| Two cohorts of consecutively identified patients referred to an inflammatory bowel disease center (n... | DisGeNET | Detail |
| We also show that the three main Crohn disease-associated mutants of NOD2 (1007fs, R702W, G908R) for... | DisGeNET | Detail |
| In this study, we demonstrate that membrane-bound versions of NOD2 and Crohn disease-associated muta... | DisGeNET | Detail |
| Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Fi... | DisGeNET | Detail |
| To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R),... | DisGeNET | Detail |
| The mutant allele frequencies of the CARD15 variants were low in the generalized aggressive periodon... | DisGeNET | Detail |
| No evidence for association of NOD2 R702W and G908R with colorectal cancer. | DisGeNET | Detail |
| NOD2/CARD15 is involved in the innate immune response and three polymorphisms in this gene (Arg702Tr... | DisGeNET | Detail |
| Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with ch... | DisGeNET | Detail |
| Furthermore, the three main mutations of CARD15/NOD2 (R702W, G908R, and 1007fs) associated with susc... | DisGeNET | Detail |
| CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Ar... | DisGeNET | Detail |
| No evidence for association of NOD2 R702W and G908R with colorectal cancer. | DisGeNET | Detail |
| Ileal samples were prospectively collected from 18 nonsmoking CD patients not treated with anti-TNF-... | DisGeNET | Detail |
| Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with ch... | DisGeNET | Detail |
| To investigate the single nucleotide polymorphism (SNPs) distribution of NOD2/CARD15 (R702W, G908R),... | DisGeNET | Detail |
| Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with ch... | DisGeNET | Detail |
| We investigated the allelic frequencies of TLR4 (D299G and T399I) and NOD2/CARD15 (R702W, G908R, and... | DisGeNET | Detail |
| Sera from 303 patients were tested for antibodies to the Crohn's disease-related bacterial sequence ... | DisGeNET | Detail |
| Three common NOD2 mutations -- 3020insC, G908R and R702W -- have been shown to be associated with ch... | DisGeNET | Detail |
| Three NOD2 polymorphisms (single nucleotide polymorphism [SNP]8 [2104C>T, Arg702Trp], SNP12 [2722... | DisGeNET | Detail |
| To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... | DisGeNET | Detail |
| CARD15 mutation analysis in an Italian population: Leu1007fsinsC but neither Arg702Trp nor Gly908Arg... | DisGeNET | Detail |
| To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... | DisGeNET | Detail |
| It has been shown previously that three nucleotide-binding oligomerization domain containing 2 (NOD2... | DisGeNET | Detail |
| We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease ... | DisGeNET | Detail |
| To evaluate the role of genetic factors in the pathogenesis of Crohn's disease (CD) and ulcerative c... | DisGeNET | Detail |
| We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease ... | DisGeNET | Detail |
| Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are associated with the patho... | DisGeNET | Detail |
| Unfortunately, even if the association between the three main CARD15 mutations (R702W, G908R and 100... | DisGeNET | Detail |
| We investigated 198 sporadic CD patients, 46 probands with familial CD, 27 CD probands from mixed IB... | DisGeNET | Detail |
| Crohn's disease-associated NOD 2 variants (Arg702Trp and 3020insC) were found to be monomorphic (wil... | DisGeNET | Detail |
| CARD15 is related to the NOD1/Apaf-1 family of apoptosis regulators, and three sequence variants (Ar... | DisGeNET | Detail |
| Genomic DNA from 563 individuals (Crohn's disease: n = 205; ulcerative colitis: n = 154; controls: n... | DisGeNET | Detail |
| The aim of this work was to determine the frequencies of the three major NOD2/CARD 15 gene mutations... | DisGeNET | Detail |
| In the current study, the frequency of CARD15/NOD2 gene variants (R702W, G908R, L1007fs), previously... | DisGeNET | Detail |
| Particular mutations of the NOD2 gene are associated with Crohn's disease including gly908arg, leu10... | DisGeNET | Detail |
| Ileal samples were prospectively collected from 18 nonsmoking CD patients not treated with anti-TNF-... | DisGeNET | Detail |
| Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... | DisGeNET | Detail |
| In the Dutch population, CARD15 G908R and L1007fs are associated with Crohn's disease. | DisGeNET | Detail |
| Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn'... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| Role of ASCA and the NOD2/CARD15 mutation Gly908Arg in predicting increased surgical costs in Crohn'... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| An insertion mutation at nucleotide 3020 (3020insC) and a missense mutation G2722C in the CARD15 gen... | DisGeNET | Detail |
| Such relationships were, however, detected for some individual extraintestinal manifestations as bet... | DisGeNET | Detail |
| Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT ... | DisGeNET | Detail |
| Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT ... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| Three common NOD2 mutations are associated with Crohn's disease (p=5.08×10(-7), 1.67×10(-6), and 1.8... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| Our aim was to investigate associations among IL1B-511, IL1B-31, IL1RN, TNFA-307, TLR-2, TLR-4, IL2-... | DisGeNET | Detail |
| Our results suggest that the G908R mutation of the CARD15/NOD2 gene, as well as the T allele and TT ... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | DisGeNET | Detail |
| One hundred and eighty unrelated IBD patients [57 Crohn's disease (CD) and 123 ulcerative colitis (U... | 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
- rs2066845 dbSNP
- Genome
- hg19
- Position
- chr16:50,756,540-50,756,540
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121412
- Allele Counts in All Race (ExAC)
- 23
- Heterozygous Counts in All Race (ExAC)
- 21
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.894376173689586E-4
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