chr11:2828300:A>C Detail (hg38) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,849,530-2,849,530 View the variant detail on this assembly version.
hg38 chr11:2,828,300-2,828,300

HGVS

Type Transcript Protein
RefSeq NM_000218.2:c.1795-19467A>C
NM_181798.1:c.1414-19467A>C
Ensemble ENST00000155840.12:c.1795-19467A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.407
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 tgv41375925 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
0.295 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 Meta-analysis of genome-wide association studies in African Americans provides i... GWASCAT 25102180 Detail
Annotation

Annotations

DescrptionSourceLinks
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
Meta-analysis of genome-wide association studies in African Americans provides insights into the gen... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2283228 dbSNP
Genome
hg38
Position
chr11:2,828,300-2,828,300
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))
rs2283228
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4072
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
6824
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16758
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