chr11:2670241:A>G Detail (hg38) (KCNQ1, KCNQ1OT1)

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

Genome

Assembly	Position
hg19	chr11:2,691,471-2,691,471 View the variant detail on this assembly version.
hg38	chr11:2,670,241-2,670,241

HGVS

KCNQ1

Type	Transcript	Protein
RefSeq	NM_000218.2:c.1514+8160A>G
	NM_181798.1:c.1133+8160A>G
Ensemble	ENST00000155840.12:c.1514+8160A>G
	ENST00000335475.6:c.1133+8160A>G
	ENST00000496887.7:c.1157+8160A>G
	ENST00000646564.2:c.974+8160A>G
	ENST00000713725.1:c.1373+8160A>G

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:0.901
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance	Benign
Review star
Show details

Links

KCNQ1

Type	Database	ID	Link
Gene	MIM	607542	OMIM
	HGNC	6294	HGNC
	Ensembl	ENSG00000053918	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv41371542	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Benign	2021-02-24	criteria provided, single submitter	not provided	germline	Detail
Benign	2019-12-03	criteria provided, single submitter	KCNQ1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.336	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.452	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.614	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.327	Diabetes Mellitus, Non-Insulin-Dependent	Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be...	BeFree	23144361	Detail
0.336	Diabetes Mellitus, Non-Insulin-Dependent	rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese popu...	BeFree	23043714	Detail
0.243	Diabetes Mellitus, Non-Insulin-Dependent	rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese popu...	BeFree	23043714	Detail
0.336	Diabetes Mellitus, Non-Insulin-Dependent	Twelve type 2 diabetes susceptibility loci identified through large-scale associ...	GWASCAT	20581827	Detail
0.120	Diabetes Mellitus, Non-Insulin-Dependent	Twelve type 2 diabetes susceptibility loci identified through large-scale associ...	GWASCAT	20581827	Detail
0.336	Diabetes Mellitus, Non-Insulin-Dependent	The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as...	BeFree	22046406	Detail
0.001	Diabetes Mellitus, Non-Insulin-Dependent	The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as...	BeFree	22046406	Detail
0.290	Diabetes Mellitus, Non-Insulin-Dependent	The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly as...	BeFree	22046406	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000218.3(KCNQ1):c.1514+8160A>G AND not provided	ClinVar	Detail
NM_000218.3(KCNQ1):c.1514+8160A>G AND KCNQ1-related disorder	ClinVar	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D...	DisGeNET	Detail
rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese population.	DisGeNET	Detail
rs231362-KCNQ1 and rs1802295-VPS26A are associated with T2DM in the Chinese population.	DisGeNET	Detail
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	DisGeNET	Detail
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.	DisGeNET	Detail
The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2...	DisGeNET	Detail
The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2...	DisGeNET	Detail
The meta-analysis revealed that rs2943641 in the IRS1 locus was significantly associated with type 2...	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: rs231362 dbSNP
Genome: hg38
Position: chr11:2,670,241-2,670,241
Variant Type: snv
Reference Allele: A
Alternative Allele: G
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)): rs231362
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.9013
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 15104
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16758

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