chr11:2837316:C>T Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,858,546-2,858,546 View the variant detail on this assembly version.
hg38 chr11:2,837,316-2,837,316

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1795-10451C>T
NM_181798.1:c.1414-10451C>T
Ensemble ENST00000155840.12:c.1795-10451C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.388
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
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 tgv41376199 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
0.014 gestational diabetes Association with GDM was found for two of the most frequently replicated T2D loc... BeFree 25973943 Detail
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
0.295 diabetes mellitus No association with measures of insulin release were identified for the less com... BeFree 19516902 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent SNPs rs2237897, rs2237892, and rs2283228 were significantly associated with type... BeFree 19252135 Detail
0.080 Diabetes No association with measures of insulin release were identified for the less com... BeFree 19516902 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... BeFree 20701788 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... BeFree 20701788 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Me... GWASCAT 24390345 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asia... GWASCAT 18711366 Detail
Annotation

Annotations

DescrptionSourceLinks
Association with GDM was found for two of the most frequently replicated T2D loci: a TCF7L2 haplotyp... 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
Seven of the 29 single nucleotide polymorphisms (SNPs) examined were found to be associated with T2D... DisGeNET Detail
No association with measures of insulin release were identified for the less common diabetes risk al... DisGeNET Detail
SNPs rs2237897, rs2237892, and rs2283228 were significantly associated with type 2 diabetes (odds ra... DisGeNET Detail
No association with measures of insulin release were identified for the less common diabetes risk al... DisGeNET Detail
Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... DisGeNET Detail
Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... DisGeNET Detail
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico. DisGeNET Detail
SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European popul... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2237897 dbSNP
Genome
hg38
Position
chr11:2,837,316-2,837,316
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs2237897
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3877
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6495
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16754
Genome browser