chr1:36363475:G>A Detail (hg19) (AGO1)

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Information

Genome

Assembly	Position
hg19	chr1:36,363,475-36,363,475
hg38	chr1:35,897,874-35,897,874 View the variant detail on this assembly version.

Summary

Links

Type	Database	ID	Link
Gene	MIM	606228	OMIM
	HGNC	3262	HGNC
	Ensembl	ENSG00000092847	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv1087518	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	Hepatitis B, Chronic	To explore the relationship between three SNPs (rs3757 in DGCR8, rs636832 in AGO...	BeFree	25239527	Detail
<0.001	hepatitis B	Our study first provided the evidence that rs636832 in AGO1 was associated with ...	BeFree	25239527	Detail

Annotation

Descrption	Source	Links
To explore the relationship between three SNPs (rs3757 in DGCR8, rs636832 in AGO1, rs7813 in GEMIN4)...	DisGeNET	Detail
Our study first provided the evidence that rs636832 in AGO1 was associated with chronic HBV infectio...	DisGeNET	Detail

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs636832 dbSNP
Genome: hg19
Position: chr1:36,363,475-36,363,475
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)): rs636832
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 0.6802
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 11400
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831)): 16760

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