clinvar

package
v0.0.0-...-1dae789 Latest Latest
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Published: Jul 25, 2022 License: MIT Imports: 11 Imported by: 2

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Functions

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Types

type Allele

type Allele struct {
	VariantID     string `json:"variantId"`
	Name          string `json:"name"`
	ClinSig       string `json:"clinSig"`
	ClinSigSimple int    `json:"clinSigSimple"`
	ProteinChange string `json:"proteinChange"`
	ReviewStatus  string `json:"reviewStatus"`
	Phenotypes    string `json:"phenotypes"`
	Chromosome    string `json:"chromosome"`
	Start         uint64 `json:"start"`
	End           uint64 `json:"end"`
}

Allele represents a variant from ClinVar

type ClinVar

type ClinVar struct {
	SNPs map[string][]Allele
	// contains filtered or unexported fields
}

func NewClinVar

func NewClinVar(clinvarDir string) (*ClinVar, error)

func (*ClinVar) GetVariant

func (cv *ClinVar) GetVariant(dbSNPID string, proteinChange string) *Allele

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