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

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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.

Summary

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

Descrption	Source	Links
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

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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