Nyuwa variants

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

Variant: 13-48036998-G-A(GRCh38)

Allele Count:	45
Allele Number:	5970
Allele Frequency:	7.5377e-3
Number of Homozygotes:	1

Reference:

dbSNP: rs74077307

gnomAD: 13-48036998-G-A

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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	2.2624e-3
	South Asian	SAS	5.6468e-3
	Afican	AFR	1.2332e-3
	Latino	AMR	1.8238e-3
	Amish	AMI	1.2346e-3
	European(Finnish)	FIN	2.8307e-3
	European(non-Finnish)	NFE	1.1097e-3
	Ashkenazi Jewish	ASJ	6.7249e-4
	other	OTH	3.4208e-3
	total		1.4345e-3

Region annotation

	Region	Gene ID	Gene Detail	Exonic function	Consequence
Ensembl	upstream	NUDT15	dist=569	-	-
RefSeq	upstream	NUDT15	dist=569	-	-

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: 13-48036998-G-A(GRCh38)

Reference:

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