chr11:17408630:C>T Detail (hg19) (KCNJ11)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:17,408,630-17,408,630 |
hg38 | chr11:17,387,083-17,387,083 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000525.3:c.1009G>A | NP_000516.3:p.Val337Ile |
NM_001166290.1:c.748G>A | NP_001159762.1:p.Val250Ile | |
Ensemble | ENST00000339994.5:c.1009G>A | ENST00000339994.5:p.Val337Ile |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.639 |
ToMMo:0.638 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.640 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-06-02 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2021-07-01 | criteria provided, multiple submitters, no conflicts | Diabetes mellitus, transient neonatal, 3 |
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Detail |
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2017-04-27 | criteria provided, single submitter | maturity-onset diabetes of the young type 13 |
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Detail |
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2021-07-01 | criteria provided, multiple submitters, no conflicts | Hyperinsulinemic hypoglycemia, familial, 2 |
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Detail |
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2020-09-16 | no assertion criteria provided | permanent neonatal diabetes mellitus |
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Detail |
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2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2021-07-01 | criteria provided, single submitter | Diabetes mellitus, permanent neonatal 2 |
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Detail |
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no assertion criteria provided | type 2 diabetes mellitus |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.452 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
<0.001 | prediabetes syndrome | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
0.081 | prediabetes syndrome | We found that inverse associations between habitual coffee intake and the combin... | BeFree | 25755232 | Detail |
<0.001 | prediabetes syndrome | We found that inverse associations between habitual coffee intake and the combin... | BeFree | 25755232 | Detail |
0.421 | Diabetes Mellitus, Non-Insulin-Dependent | We found a lower risk of prediabetes and type 2 diabetes combined with coffee in... | BeFree | 25755232 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | [These results suggest that individuals with increased genetic susceptibility to... | GAD | 20203524 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Meta-analysis of genome-wide association data and large-scale replication identi... | GWASCAT | 18372903 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Replication of genome-wide association signals in UK samples reveals risk loci f... | GWASCAT | 17463249 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... | GWASCAT | 24509480 | Detail |
0.083 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.214 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.614 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.214 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.466 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.336 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.314 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.452 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.290 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.090 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.296 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.003 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.090 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.340 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.452 | Diabetes Mellitus, Non-Insulin-Dependent | Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were ge... | BeFree | 22569928 | Detail |
0.341 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.181 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.057 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.017 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.032 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.176 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.293 | Diabetes Mellitus, Non-Insulin-Dependent | To examine the association of type 2 diabetes susceptibility loci and visceral f... | BeFree | 22377712 | Detail |
0.005 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
0.001 | Diabetes | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
<0.001 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
0.019 | Diabetes | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
0.006 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
0.060 | diabetes mellitus | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
0.002 | Fibrillation | We observed suggestive associations with the diabetes risk variant rs7961581 (p ... | BeFree | 24135527 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND not specified | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Diabetes mellitus, transient neonatal, 3 | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Maturity-onset diabetes of the young type 13 | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Hyperinsulinemic hypoglycemia, familial, 2 | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Permanent neonatal diabetes mellitus | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND not provided | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Diabetes mellitus, permanent neonatal 2 | ClinVar | Detail |
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) AND Type 2 diabetes mellitus | ClinVar | Detail |
We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
We found that inverse associations between habitual coffee intake and the combined risk of type 2 di... | DisGeNET | Detail |
We found that inverse associations between habitual coffee intake and the combined risk of type 2 di... | DisGeNET | Detail |
We found a lower risk of prediabetes and type 2 diabetes combined with coffee intake among individua... | DisGeNET | Detail |
[These results suggest that individuals with increased genetic susceptibility to T2D have decreased ... | DisGeNET | Detail |
Meta-analysis of genome-wide association data and large-scale replication identifies additional susc... | DisGeNET | Detail |
Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes. | DisGeNET | Detail |
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
Seven SNPs in six genes known to increase the risk of T2DM in Caucasians were genotyped by means of ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
To examine the association of type 2 diabetes susceptibility loci and visceral fat accumulation, we ... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | DisGeNET | Detail |
We observed suggestive associations with the diabetes risk variant rs7961581 (p = 0.038; between TSP... | 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
- rs5215 dbSNP
- Genome
- hg19
- Position
- chr11:17,408,630-17,408,630
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 125.96
- Standard deviation of sample read depth (HGVD)
- 58.35
- Number of reference allele (HGVD)
- 873
- Number of alternative allele (HGVD)
- 1547
- Allele Frequency (HGVD)
- 0.6392561983471075
- Gene Symbol (HGVD)
- KCNJ11
- 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))
- rs5215
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6383
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 10697
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8622
- East Asian Allele Counts (ExAC)
- 5515
- East Asian Heterozygous Counts (ExAC)
- 1987
- East Asian Homozygous Counts (ExAC)
- 1764
- East Asian Allele Frequency (ExAC)
- 0.6396427742983066
- Chromosome Counts in All Race (ExAC)
- 121348
- Allele Counts in All Race (ExAC)
- 78250
- Heterozygous Counts in All Race (ExAC)
- 26794
- Homozygous Counts in All Race (ExAC)
- 25728
- Allele Frequency in All Race (ExAC)
- 0.6448396347694235
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