chr19:45395266:G>A Detail (hg19) (TOMM40)

Information

Genome

Assembly Position
hg19 chr19:45,395,266-45,395,266
hg38 chr19:44,892,009-44,892,009 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001128917.1:c.274+320G>A
NM_001128916.1:c.274+320G>A
NM_006114.2:c.274+320G>A
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 3,738
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.518
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 tgv62263715 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided Alzheimer disease not provided MGS000015
(TMGS000120) 		Hiroshi Mori Osaka City University
not provided mild cognitive impairment not provided MGS000015
(TMGS000120) 		Hiroshi Mori Osaka City University
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.159 Alzheimer's disease [Our results underscore the importance of international efforts combining GWAS d... GAD 21627779 Detail
0.159 Alzheimer's disease [In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene L... GAD 21123754 Detail
0.159 Alzheimer's disease Examination of the current top candidate genes for AD in a genome-wide associati... GWASCAT 19125160 Detail
0.159 Alzheimer's disease The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a comm... GWASCAT 21627779 Detail
Annotation

Annotations

DescrptionSourceLinks
[Our results underscore the importance of international efforts combining GWAS datasets to isolate g... DisGeNET Detail
[In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene LOC100129500 partiall... DisGeNET Detail
Examination of the current top candidate genes for AD in a genome-wide association study. DisGeNET Detail
The membrane-spanning 4-domains, subfamily A (MS4A) gene cluster contains a common variant associate... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs157580 dbSNP
Genome
hg19
Position
chr19:45,395,266-45,395,266
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs157580
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.518
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8682
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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