chr19:45403064:TTTTTTTTTTTTTTTTTTTT> Detail (hg19) (TOMM40)

Information

Genome

Assembly Position
hg19 chr19:45,403,064-45,403,083
hg38 chr19:44,899,807-44,899,826 

HGVS

Type Transcript Protein
RefSeq NM_006114.2:c.644-923_644-904delTTTTTTTTTTTTTTTTTTTT
NM_001128916.1:c.644-923_644-904delTTTTTTTTTTTTTTTTTTTT
NM_001128917.1:c.644-923_644-904delTTTTTTTTTTTTTTTTTTTT
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.023
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 608061 OMIM
HGNC 18001 HGNC
Ensembl ENSG00000130204 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv80012128 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 Alzheimer Disease, Late Onset We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect ... BeFree 25500937 Detail
0.019 Alzheimer Disease, Late Onset We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect ... BeFree 25500937 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent The TOMM40 poly-T rs10524523 variant is associated with cognitive performance am... BeFree 25044051 Detail
Annotation

Annotations

DescrptionSourceLinks
We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependen... DisGeNET Detail
We conclude that the poly-T repeat associations of rs10524523 in TOMM40 reflect the APOE ε4-dependen... DisGeNET Detail
The TOMM40 poly-T rs10524523 variant is associated with cognitive performance among non-demented eld... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr19:45,403,064-45,403,083
Variant Type
snv
Reference Allele
TTTTTTTTTTTTTTTTTTTT
Alternative Allele
-
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0227
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
353
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
15518
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