A comprehensive Japanese genetic variation database

Disease: Breast-ovarian cancer, familial 2

Gene: ALDH2

refSNP: rs114202595

TogoVar: tgv421843

HGVSc: NM_000690:c.1510G>A

HGVSp: ALDH2:p.Glu504Lys

Position(GRCh37/hg19): 16:48258198

Region(GRCh37/hg19): 10:73270743-73376976

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Detailed variant report page

Genes

External links

Alternative allele frequencies

Dataset	Alt	Total	Frequency

Consequence

Clinical significance

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Dataset

Alternative allele frequency

~Invert range

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1.0

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Variant calling quality

Exclude filtered out variants in all datasets

Variant type

Clinical significance

Consequence

SIFT

PolyPhen

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