Nyuwa variants

Basic
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External data
Region Annotation
Nonsynonymous impact
Loss of function predict
Clinical annotation
Pharmacogenomics

Variant: 22-42125895-C-G(GRCh38)

Allele Count:	2
Allele Number:	5970
Allele Frequency:	3.3501e-4
Number of Homozygotes:	0

Reference:

dbSNP: -

gnomAD: 22-42125895-C-G

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External data population frequency

Dataset	Population	Population abbr	Allele Frequency
1KGP3	East Asian	EAS	-
	South Asian	SAS	-
	African	AFR	-
	Americas	AMR	-
	European ancestry	EUR	-
	total		-

gnomAD v3 Genomes	East Asian	EAS	6.4725e-4
	South Asian	SAS	0.0
	Afican	AFR	0.0
	Latino	AMR	0.0
	Amish	AMI	0.0
	European(Finnish)	FIN	0.0
	European(non-Finnish)	NFE	0.0
	Ashkenazi Jewish	ASJ	0.0
	other	OTH	0.0
	total		1.4093e-5

Region annotation

	Region	Gene ID	Gene Detail	Exonic function	Consequence
Ensembl	ncRNA_intronic	NDUFA6-AS1	-	-	-
RefSeq	downstream	CYP2D6;CYP2D7;LOC101929829;NDUFA6-DT	dist=67	-	-

Nonsynonymous impact

Method	Score	Rank Score	predicted consequence
SIFT	-	-	-
PolyPhen2_HDIV	-	-	-
PolyPhen2_HVAR	-	-	-
FATHMM	-	-	-
CADD	-	-	-

Clinical annotation

ClinVar Significance	ClinVar Disease Name	ClinVar Allele ID	Tag-value
-	-	-	-

Loss of function predict

Loss of Function (LoF) variants are indentified by package LOFTEE developed recently by gnomAD group to assess stop-gained, splice site disrupting and frameshift variants as “low-confidence” (LC) or “high-confidence” (HC) LoF variants.

LoF	LoF_filter	LoF_flags	LoF_info
-	-	-	-

Pharmacogenomics

Belong to Haplotype	Drug	Guideine	URL	CPIC_Level	PharmGKB_Level _of_Evidence	PGx_on_FDA _Label	CPIC_Publications_PMID
-	-	-	-	-	-	-	-

Variant: 22-42125895-C-G(GRCh38)

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