chr11:2705343:A>G Detail (hg19) (KCNQ1)

Information

Genome

Assembly Position
hg19 chr11:2,705,343-2,705,343
hg38 chr11:2,684,113-2,684,113 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_181798.1:c.1133+22032A>G
NM_000218.2:c.1514+22032A>G
Ensemble ENST00000713725.1:c.1373+22032A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[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
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.336 Diabetes Mellitus, Non-Insulin-Dependent Meta-analysis of genome-wide association studies in African Americans provides i... GWASCAT 25102180 Detail
0.120 Diabetes Mellitus, Non-Insulin-Dependent Meta-analysis of genome-wide association studies in African Americans provides i... GWASCAT 25102180 Detail
Annotation

Annotations

DescrptionSourceLinks
Meta-analysis of genome-wide association studies in African Americans provides insights into the gen... DisGeNET Detail
Meta-analysis of genome-wide association studies in African Americans provides insights into the gen... 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
rs231356 dbSNP
Genome
hg19
Position
chr11:2,705,343-2,705,343
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser