chr11:2182224:A>T Detail (hg19) (INS, TH, INS-IGF2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:2,182,224-2,182,224 |
hg38 | chr11:2,160,994-2,160,994 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001185098.1:c.-23T>A | |
NM_001291897.1:c.-23T>A | ||
NM_000207.2:c.-17-6T>A |
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001042376.2:c.-17-6T>A | |
Ensemble | ENST00000397270.1:c.-17-6T>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.971 |
ToMMo:0.968 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.954 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2016-06-14 | criteria provided, single submitter | Transient Neonatal Diabetes, Dominant/Recessive |
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Detail |
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2016-06-14 | criteria provided, single submitter | Autosomal recessive DOPA responsive dystonia |
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Detail |
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2016-06-14 | criteria provided, single submitter | Maturity onset diabetes mellitus in young |
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Detail |
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2017-08-24 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2018-01-12 | criteria provided, single submitter | maturity-onset diabetes of the young type 10 |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.004 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.374 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.005 | Diabetes | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
<0.001 | Diabetes | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.088 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.002 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.002 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.089 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
<0.001 | diabetes mellitus | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.330 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.010 | Diabetes Mellitus, Non-Insulin-Dependent | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.005 | diabetes mellitus | The aim of our study was to investigate whether common polymorphisms in the gene... | BeFree | 15127203 | Detail |
0.293 | Diabetes Mellitus, Insulin-Dependent | A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... | BeFree | 25964488 | Detail |
0.371 | Diabetes Mellitus, Insulin-Dependent | A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... | BeFree | 25964488 | Detail |
0.084 | Diabetes Mellitus, Insulin-Dependent | A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... | BeFree | 25964488 | Detail |
<0.001 | Diabetes Mellitus, Insulin-Dependent | A gene-gene interaction in the T1D data were observed between the IL2RA rs210428... | BeFree | 25964488 | Detail |
0.002 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
<0.001 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
0.016 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
<0.001 | Autoimmune thyroid disease | Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 ... | BeFree | 18940880 | Detail |
0.023 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.026 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.250 | Diabetes Mellitus, Insulin-Dependent | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.011 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.080 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.010 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.002 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.004 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.295 | diabetes mellitus | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.004 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
0.001 | Diabetes | One hundred and one children with type 1 diabetes and 160 healthy controls from ... | BeFree | 25256132 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000207.3(INS):c.-17-6T>A AND Transient Neonatal Diabetes, Dominant/Recessive | ClinVar | Detail |
NM_000207.3(INS):c.-17-6T>A AND Autosomal recessive DOPA responsive dystonia | ClinVar | Detail |
NM_000207.3(INS):c.-17-6T>A AND Maturity onset diabetes mellitus in young | ClinVar | Detail |
NM_000207.3(INS):c.-17-6T>A AND not provided | ClinVar | Detail |
NM_000207.3(INS):c.-17-6T>A AND Maturity-onset diabetes of the young type 10 | ClinVar | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
The aim of our study was to investigate whether common polymorphisms in the genes regulating the ear... | DisGeNET | Detail |
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... | DisGeNET | Detail |
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... | DisGeNET | Detail |
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... | DisGeNET | Detail |
A gene-gene interaction in the T1D data were observed between the IL2RA rs2104286 and GIMAP4 rs96402... | DisGeNET | Detail |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | DisGeNET | Detail |
One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were... | 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
- rs689 dbSNP
- Genome
- hg19
- Position
- chr11:2,182,224-2,182,224
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 826
- Mean of sample read depth (HGVD)
- 26.34
- Standard deviation of sample read depth (HGVD)
- 14.33
- Number of reference allele (HGVD)
- 48
- Number of alternative allele (HGVD)
- 1604
- Allele Frequency (HGVD)
- 0.9709443099273608
- Gene Symbol (HGVD)
- INS
- 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))
- rs689
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.968
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16221
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8478
- East Asian Allele Counts (ExAC)
- 8084
- East Asian Heterozygous Counts (ExAC)
- 380
- East Asian Homozygous Counts (ExAC)
- 3852
- East Asian Allele Frequency (ExAC)
- 0.9535267751828261
- Chromosome Counts in All Race (ExAC)
- 115618
- Allele Counts in All Race (ExAC)
- 84031
- Heterozygous Counts in All Race (ExAC)
- 20459
- Homozygous Counts in All Race (ExAC)
- 31786
- Allele Frequency in All Race (ExAC)
- 0.7267985953744227
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