chr19:44907771:A>G Detail (hg38) (APOE)

Information

Genome

Assembly Position
hg19 chr19:45,411,028-45,411,028 View the variant detail on this assembly version.
hg38 chr19:44,907,771-44,907,771

HGVS

Type Transcript Protein
RefSeq NM_000041.3:c.55A>G NP_000032.1:p.Lys19Glu
NM_001302688.1:c.55A>G NP_001289617.1:p.Lys19Glu
NM_001302689.1:c.55A>G NP_001289618.1:p.Lys19Glu
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 107741 OMIM
HGNC 613 HGNC
Ensembl ENSG00000130203 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
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19424605 Detail
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19424605 Detail
<0.001 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19424605 Detail
0.002 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19424605 Detail
0.002 Chronic Kidney Diseases The Chi-square test, multivariable logistic regression analysis with adjustment ... BeFree 19424605 Detail
0.002 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
0.002 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
<0.001 Chronic Kidney Diseases The chi-square test and multivariable logistic regression analysis with adjustme... BeFree 19406964 Detail
Annotation

Annotations

DescrptionSourceLinks
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... DisGeNET Detail
The Chi-square test, multivariable logistic regression analysis with adjustment for covariates, as w... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... DisGeNET Detail
The chi-square test and multivariable logistic regression analysis with adjustment for covariates re... 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
rs11542036 dbSNP
Genome
hg38
Position
chr19:44,907,771-44,907,771
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser