chr11:2835964:A>C Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,857,194-2,857,194 View the variant detail on this assembly version.
hg38 chr11:2,835,964-2,835,964

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1795-11803A>C
NM_181798.1:c.1414-11803A>C
Ensemble ENST00000155840.12:c.1795-11803A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.348
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 tgv41376156 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
0.004 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.003 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... BeFree 24145053 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymor... BeFree 22414228 Detail
0.003 Diabetes Mellitus, Non-Insulin-Dependent COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... BeFree 24145053 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... BeFree 24145053 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... BeFree 20701788 Detail
0.329 Diabetes Mellitus, Non-Insulin-Dependent COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs223789... BeFree 24145053 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, an... BeFree 20701788 Detail
<0.001 Malignant neoplasm of pancreas In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic can... BeFree 25516658 Detail
<0.001 pancreatic carcinoma In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic can... BeFree 25516658 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with r... BeFree 19516902 Detail
0.374 Diabetes Mellitus, Non-Insulin-Dependent The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% am... BeFree 19516902 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent [By identifying two novel genetic susceptibility loci in a Han Chinese populatio... GAD 20174558 Detail
0.024 gestational diabetes In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs22... BeFree 19850681 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent By identifying two novel genetic susceptibility loci in a Han Chinese population... GWASCAT 20174558 Detail
0.336 Diabetes Mellitus, Non-Insulin-Dependent Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... BeFree 24906951 Detail
0.214 Diabetes Mellitus, Non-Insulin-Dependent Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... BeFree 24906951 Detail
0.290 Diabetes Mellitus, Non-Insulin-Dependent Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Fi... BeFree 24906951 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... DisGeNET Detail
The present study evaluated the effects of KCNQ1 rs2237892 and rs2237895 polymorphisms on repaglinid... DisGeNET Detail
COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... DisGeNET Detail
COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... DisGeNET Detail
Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... DisGeNET Detail
COL8A1 rs792837 (P=2.9 × 10(-9)), KCNQ1 rs2237892 (P=1.8 × 10(-18)) and rs2237895 (P=0.002), ALX4 rs... DisGeNET Detail
Four single nucleotide polymorphisms (SNPs) (rs2237892, rs2237895, rs2237897, and rs2283228) in KCNQ... DisGeNET Detail
In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic cancer risk, with a mul... DisGeNET Detail
In contrast, rs2237895 in the KCNQ1 gene was inversely related to pancreatic cancer risk, with a mul... DisGeNET Detail
The type 2 diabetes associated minor allele of rs2237895 KCNQ1 associates with reduced insulin relea... DisGeNET Detail
The minor C-allele of rs2237895 of KCNQ1, which has a prevalence of about 42% among Caucasians was a... DisGeNET Detail
[By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the... DisGeNET Detail
In the analyses of the GDM-related phenotype, only the risk allele of KCNQ1 rs2237895 was significan... DisGeNET Detail
By identifying two novel genetic susceptibility loci in a Han Chinese population and confirming the ... DisGeNET Detail
Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... DisGeNET Detail
Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... DisGeNET Detail
Variants in the KCNQ1 (rs2237895, p = 0.0012), HHEX (rs1111875, p = 0.0024 in Finns) and MTNR1B (rs1... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2237895 dbSNP
Genome
hg38
Position
chr11:2,835,964-2,835,964
Variant Type
snv
Reference Allele
A
Alternative Allele
C
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))
rs2237895
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3484
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5839
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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