chr11:17387284:G>T Detail (hg38) (KCNJ11)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr11:17,408,831-17,408,831 View the variant detail on this assembly version.
hg38	chr11:17,387,284-17,387,284

HGVS

KCNJ11

Type	Transcript	Protein
RefSeq	NM_000525.3:c.808C>A	NP_000516.3:p.Leu270Met
	NM_001166290.1:c.547C>A	NP_001159762.1:p.Leu183Met
Ensemble	ENST00000339994.5:c.808C>A	ENST00000339994.5:p.Leu270Met
	ENST00000528731.1:c.547C>A	ENST00000528731.1:p.Leu183Met
	ENST00000682350.1:c.547C>A	ENST00000682350.1:p.Leu183Met
	ENST00000682764.1:c.547C>A	ENST00000682764.1:p.Leu183Met

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
Review star	[No Data.]
Show details

Links

KCNJ11

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
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

[No Data.]

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
<0.001	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail
0.466	Diabetes Mellitus, Non-Insulin-Dependent	Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 ...	BeFree	25733456	Detail

Annotation

Annotations

Descrption	Source	Links
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	DisGeNET	Detail
Among women with magnesium intake in the lowest 30% (AA: ≤0.164 g/d; HA: ≤0.185 g/d), 4 SNP signals ...	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: hg38
Position: chr11:17,387,284-17,387,284
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
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): 121360
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 1.6479894528675016E-5

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