chr16:50745926:C>T Detail (hg19) (NOD2)

Information

Genome

Assembly Position
hg19 chr16:50,745,926-50,745,926
hg38 chr16:50,712,015-50,712,015 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001293557.1:c.2104C>T NP_001280486.1:p.Arg702Trp
NM_022162.2:c.2104C>T NP_071445.1:p.Arg702Trp
Ensemble ENST00000647318.2:c.2023C>T ENST00000647318.2:p.Arg675Trp
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; association
Review star
Show details
Links
Type Database ID Link
Gene MIM 605956 OMIM
HGNC 5331 HGNC
Ensembl ENSG00000167207 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2016-03-29 criteria provided, conflicting interpretations not specified germline unknown Detail
Likely benign 2017-04-27 criteria provided, single submitter Blau syndrome germline Detail
Uncertain significance 2020-08-18 criteria provided, single submitter Yao syndrome germline unknown Detail
not provided no assertion provided unknown Detail
Likely benign 2017-04-27 criteria provided, single submitter inflammatory bowel disease 1 germline Detail
Benign 2023-11-29 criteria provided, single submitter not provided germline Detail
Uncertain significance 2022-04-19 criteria provided, single submitter Autoinflammatory syndrome germline Detail
association 2024-01-31 criteria provided, single submitter Regional enteritis,Blau syndrome germline Detail
association 2024-01-31 criteria provided, single submitter Regional enteritis,Blau syndrome 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
0.014 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
0.080 Crohn Disease We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... BeFree 18715515 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 We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... BeFree 18715515 Detail
0.080 Crohn Disease We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... BeFree 18715515 Detail
0.368 Crohn Disease We confirmed a strong association between three NOD2/CARD15 gene variants (Pro26... BeFree 18715515 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
0.560 Crohn Disease The R702W mutation of CARD15 gene was associated with Crohn's disease in the Ira... BeFree 18541930 Detail
0.560 Crohn Disease In cells carrying the Crohn-associated NOD2 variant R702W the NF-kappaB response... BeFree 16819970 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
0.034 ulcerative colitis We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles we... BeFree 16010583 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
0.003 short bowel syndrome NOD2 gene polymorphism rs2066844 associates with need for combined liver-intesti... BeFree 20959815 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
<0.001 Chronic Periodontitis Our results suggest no role for CARD15 3020insC and C2104T mutations in adult pe... BeFree 15367194 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
0.560 Crohn Disease Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-... BeFree 18616576 Detail
0.005 Bacterial Infections Recipient's genetic R702W NOD2 variant is associated with an increased risk of b... BeFree 23977330 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
0.003 short bowel syndrome [NOD2 gene polymorphism rs2066844 associates with need for combined liver-intest... GAD 20959815 Detail
0.028 Ileal Diseases These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) allel... BeFree 15770725 Detail
0.234 ulcerative colitis We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles we... BeFree 16010583 Detail
0.234 ulcerative colitis NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in ... BeFree 18680223 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&gt;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 Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promot... BeFree 23892590 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
<0.001 Crohn Disease Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promot... BeFree 23892590 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
0.560 Crohn Disease Two functional mutations, an insertion mutation at nucleotide 3020 (3020insC) an... BeFree 15367194 Detail
0.397 Inflammatory Bowel Diseases Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are assoc... BeFree 17355968 Detail
0.560 Crohn Disease Only two patients with early onset Crohn's disease exhibited rare deleterious va... BeFree 22543157 Detail
0.002 Multiple Organ Failure [The NOD2 SNP rs2066844 associates with combined liver and intestinal failure in... GAD 20959815 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 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

DescrptionSourceLinks
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND not specified ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Blau syndrome ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Yao syndrome ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Crohn disease ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Inflammatory bowel disease 1 ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND not provided ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND Autoinflammatory syndrome ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) AND multiple conditions ClinVar Detail
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) 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
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
We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... 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
We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... DisGeNET Detail
We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... DisGeNET Detail
We confirmed a strong association between three NOD2/CARD15 gene variants (Pro268Ser, OR = 2.52, 95%... 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
The R702W mutation of CARD15 gene was associated with Crohn's disease in the Iranian population. DisGeNET Detail
In cells carrying the Crohn-associated NOD2 variant R702W the NF-kappaB response was significantly d... 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 observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly mor... 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
NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation i... 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
Our results suggest no role for CARD15 3020insC and C2104T mutations in adult periodontitis. 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
Granulomatous rosacea and Crohn's disease in a patient homozygous for the Crohn-associated NOD2/CARD... DisGeNET Detail
Recipient's genetic R702W NOD2 variant is associated with an increased risk of bacterial infections ... 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
[NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation ... DisGeNET Detail
These results confirm that variant NOD2/CARD15 (R702W, R703C and 3020insC) alleles are associated wi... DisGeNET Detail
We observed that the R702W and 1007fs Nod2 alleles and the A299G Tlr4 alleles were significantly mor... DisGeNET Detail
NOD2/CARD15 R702W mutation was significantly more frequent in CD (9.8%) than in controls (2.4%, P = ... 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&gt;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
Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promoter, an activity that... 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
Activation of NOD2 in HEK293 cells overexpressing NOD2 induced the IL-17C promoter, an activity that... 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
Two functional mutations, an insertion mutation at nucleotide 3020 (3020insC) and a missense mutatio... DisGeNET Detail
Mutations in Nod2 (1007FS, R702W, G908R) impinge on NOD2 functions and are associated with the patho... DisGeNET Detail
Only two patients with early onset Crohn's disease exhibited rare deleterious variations within NOD2... DisGeNET Detail
[The NOD2 SNP rs2066844 associates with combined liver and intestinal failure in subjects with short... 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
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
rs2066844 dbSNP
Genome
hg19
Position
chr16:50,745,926-50,745,926
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8570
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)
118890
Allele Counts in All Race (ExAC)
2704
Heterozygous Counts in All Race (ExAC)
2594
Homozygous Counts in All Race (ExAC)
55
Allele Frequency in All Race (ExAC)
0.02274371267558247
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