chr18:67531642:T>A Detail (hg19) (CD226)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:67,531,642-67,531,642 |
| hg38 | chr18:69,864,406-69,864,406 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_006566.3:c.919A>T | NP_006557.2:p.Ser307Cys |
| NM_001303619.1:c.454A>T | NP_001290548.1:p.Ser152Cys | |
| NM_001303618.1:c.919A>T | NP_001290547.1:p.Ser307Cys |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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 |
|---|---|---|---|---|---|
| 0.019 | multiple sclerosis | Two of these seven SNPs showed evidence of association with multiple sclerosis; ... | BeFree | 18987646 | Detail |
| 0.282 | multiple sclerosis | Two of these seven SNPs showed evidence of association with multiple sclerosis; ... | BeFree | 18987646 | Detail |
| 0.128 | rheumatoid arthritis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.006 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.019 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.005 | rheumatoid arthritis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.019 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| <0.001 | multiple sclerosis | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.003 | Diabetes Mellitus, Insulin-Dependent | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.273 | Lupus Erythematosus, Systemic | We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and ... | BeFree | 21765104 | Detail |
| 0.124 | rheumatoid arthritis | Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymor... | BeFree | 25645050 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | [Genome-wide association analysis of autoantibody positivity in type 1 diabetes ... | GAD | 21829393 | Detail |
| 0.019 | multiple sclerosis | Recently, there has been increasing evidence shown that a non-synonymous exchang... | BeFree | 23073294 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | Robust associations of four new chromosome regions from genome-wide analyses of ... | GWASCAT | 17554260 | Detail |
| 0.011 | Autoimmune Diseases | A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-... | BeFree | 21521299 | Detail |
| 0.011 | Autoimmune Diseases | Association between the CD226 rs763361 polymorphism and susceptibility to autoim... | BeFree | 22941566 | Detail |
| <0.001 | Polyendocrinopathies, Autoimmune | The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Se... | BeFree | 21521299 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and p... | BeFree | 18971939 | Detail |
| 0.019 | multiple sclerosis | There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser)... | BeFree | 22728856 | Detail |
| 0.006 | Lupus Erythematosus, Systemic | This meta-analysis demonstrates the CD226 rs763361 polymorphism confers suscepti... | BeFree | 22941566 | Detail |
| 0.019 | multiple sclerosis | Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's gran... | BeFree | 19536154 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | [Robust associations of four new chromosome regions from genome-wide analyses of... | GAD | 17554260 | Detail |
| 0.011 | Autoimmune Diseases | A novel non-synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chrom... | BeFree | 20887380 | Detail |
| 0.011 | Autoimmune Diseases | There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser)... | BeFree | 22728856 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | This meta-analysis demonstrates the CD226 rs763361 polymorphism confers suscepti... | BeFree | 22941566 | Detail |
| 0.011 | Autoimmune Diseases | Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to... | BeFree | 20338887 | Detail |
| <0.001 | Granulomatosis | Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's gran... | BeFree | 19536154 | Detail |
| 0.011 | Autoimmune Diseases | CD226 Gly307Ser association with multiple autoimmune diseases. | BeFree | 18971939 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | CD226 rs763361 is associated with the susceptibility to type 1 diabetes and grea... | BeFree | 24891767 | Detail |
| 0.001 | systemic scleroderma | On the other hand, associations were found between the CD226 rs763361 T allele a... | BeFree | 22941566 | Detail |
| 0.119 | Diabetes Mellitus, Insulin-Dependent | CD226 rs763361 is associated with the susceptibility to type 1 diabetes and grea... | BeFree | 24891767 | Detail |
| 0.127 | rheumatoid arthritis | The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and p... | BeFree | 18971939 | Detail |
| 0.002 | Polyendocrinopathies, Autoimmune | PATIENT AND DESIGN: We genotyped rs763361 in a UK cohort of 326 AAD subjects [18... | BeFree | 21521299 | Detail |
| 0.011 | Autoimmune Diseases | Recently, there has been increasing evidence that a non-synonymous exchange (Gly... | BeFree | 19536154 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | Recently, there has been increasing evidence shown that a non-synonymous exchang... | BeFree | 23073294 | Detail |
| 0.127 | rheumatoid arthritis | CD226 rs763361 (Gly307Ser) polymorphism is associated with susceptibility to rhe... | BeFree | 23999715 | Detail |
| 0.011 | Autoimmune Diseases | CD226 Gly307Ser association with multiple autoimmune diseases: a meta-analysis. | BeFree | 23073294 | Detail |
| 0.127 | rheumatoid arthritis | Recently, there has been increasing evidence shown that a non-synonymous exchang... | BeFree | 23073294 | Detail |
| 0.134 | Diabetes Mellitus, Insulin-Dependent | Recently, there has been increasing evidence that a non-synonymous exchange (Gly... | BeFree | 19536154 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... | DisGeNET | Detail |
| Two of these seven SNPs showed evidence of association with multiple sclerosis; that is rs12708716 f... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| We replicated the genetic association with rs13277113 (p = 0.0009, OR 1.46) and rs2736340 (p = 0.000... | DisGeNET | Detail |
| Our meta-analysis demonstrates that the CD226 rs763361 and FASL rs763110 polymorphisms are associate... | DisGeNET | Detail |
| [Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.] | DisGeNET | Detail |
| Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... | DisGeNET | Detail |
| Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. | DisGeNET | Detail |
| A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-surface CD226 (DNAM1... | DisGeNET | Detail |
| Association between the CD226 rs763361 polymorphism and susceptibility to autoimmune diseases: a met... | DisGeNET | Detail |
| The role of a nonsynonymous CD226 (DNAX-accessory molecule-1) variant (Gly 307Ser) in isolated Addis... | DisGeNET | Detail |
| The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and possibly AITD and RA,... | DisGeNET | Detail |
| There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser) in the gene for CD2... | DisGeNET | Detail |
| This meta-analysis demonstrates the CD226 rs763361 polymorphism confers susceptibility to autoimmune... | DisGeNET | Detail |
| Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confi... | DisGeNET | Detail |
| [Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.] | DisGeNET | Detail |
| A novel non-synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chromosome 18q22 was rece... | DisGeNET | Detail |
| There has been more evidence that a non-synonymous exchange (rs763361/Gly307Ser) in the gene for CD2... | DisGeNET | Detail |
| This meta-analysis demonstrates the CD226 rs763361 polymorphism confers susceptibility to autoimmune... | DisGeNET | Detail |
| Non-synonymous variant (Gly307Ser) in CD226 is associated with susceptibility to multiple autoimmune... | DisGeNET | Detail |
| Novel association of the CD226 (DNAM-1) Gly307Ser polymorphism in Wegener's granulomatosis and confi... | DisGeNET | Detail |
| CD226 Gly307Ser association with multiple autoimmune diseases. | DisGeNET | Detail |
| CD226 rs763361 is associated with the susceptibility to type 1 diabetes and greater frequency of GAD... | DisGeNET | Detail |
| On the other hand, associations were found between the CD226 rs763361 T allele and systemic sclerosi... | DisGeNET | Detail |
| CD226 rs763361 is associated with the susceptibility to type 1 diabetes and greater frequency of GAD... | DisGeNET | Detail |
| The Ser(307) allele of rs763361 in exon 7 of CD226 predisposes to T1D, MS, and possibly AITD and RA,... | DisGeNET | Detail |
| PATIENT AND DESIGN: We genotyped rs763361 in a UK cohort of 326 AAD subjects [183 with associated au... | DisGeNET | Detail |
| Recently, there has been increasing evidence that a non-synonymous exchange (Gly307Ser) in the gene ... | DisGeNET | Detail |
| Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... | DisGeNET | Detail |
| CD226 rs763361 (Gly307Ser) polymorphism is associated with susceptibility to rheumatoid arthritis in... | DisGeNET | Detail |
| CD226 Gly307Ser association with multiple autoimmune diseases: a meta-analysis. | DisGeNET | Detail |
| Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs76336... | DisGeNET | Detail |
| Recently, there has been increasing evidence that a non-synonymous exchange (Gly307Ser) in the gene ... | 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
- -
- Genome
- hg19
- Position
- chr18:67,531,642-67,531,642
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1207
- Mean of sample read depth (HGVD)
- 77.91
- Standard deviation of sample read depth (HGVD)
- 33.98
- Number of reference allele (HGVD)
- 1042
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 0.0019157088122605363
- Gene Symbol (HGVD)
- CD226
- 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))
- rs763361
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8640
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1574074074074075E-4
- Chromosome Counts in All Race (ExAC)
- 121364
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 0
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.239675686364985E-6
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