chr11:17387083:C>T Detail (hg38) (KCNJ11)

Information

Genome

Assembly Position
hg19 chr11:17,408,630-17,408,630 View the variant detail on this assembly version.
hg38 chr11:17,387,083-17,387,083

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 Benign
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 Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600937 OMIM
HGNC 6257 HGNC
Ensembl ENSG00000187486 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41765518 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2021-06-02 criteria provided, multiple submitters, no conflicts not specified germline unknown Detail
Benign Likely benign 2021-07-01 criteria provided, multiple submitters, no conflicts Diabetes mellitus, transient neonatal, 3 germline Detail
Likely benign 2017-04-27 criteria provided, single submitter maturity-onset diabetes of the young type 13 germline Detail
Benign Likely benign 2021-07-01 criteria provided, multiple submitters, no conflicts Hyperinsulinemic hypoglycemia, familial, 2 germline Detail
Benign 2020-09-16 no assertion criteria provided permanent neonatal diabetes mellitus germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-07-01 criteria provided, single submitter Diabetes mellitus, permanent neonatal 2 germline Detail
association no assertion criteria provided type 2 diabetes mellitus somatic 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

DescrptionSourceLinks
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
hg38
Position
chr11:17,387,083-17,387,083
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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