chr19:45398716:A>C Detail (hg19) (TOMM40)

Information

Genome

Assembly Position
hg19 chr19:45,398,716-45,398,716
hg38 chr19:44,895,459-44,895,459 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006114.2:c.643+1393A>C
NM_001128916.1:c.643+1393A>C
NM_001128917.1:c.643+1393A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.313
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 tgv62263941 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
0.009 Primary Progressive Aphasia (disorder) Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE... BeFree 22710912 Detail
<0.001 Primary Progressive Aphasia (disorder) Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE... BeFree 22710912 Detail
Annotation

Annotations

DescrptionSourceLinks
Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was obse... DisGeNET Detail
Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was obse... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs157590 dbSNP
Genome
hg19
Position
chr19:45,398,716-45,398,716
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))
rs157590
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3131
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5248
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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