T-REx

Variant location (GRCh37) chr11:5246830

Variant class : insertion
Alleles : A/AGT
Existing ID : rs33999427&HbVar.710

Quality score : 986.62
Filter : PASS

Annotations

Consequence	Impact	Gene	HGVSg	HGVSc	HGVSp	cDNA position	CDS position	Protein position	Codons	Amino acids	SIFT score	PolyPhen score
frameshift_variant	HIGH	HBB	chr11:g.5246832_5246833dup	NM_000518.4:c.440_441dup	NP_000509.1:p.Ter148ThrfsTer12	491-492/626	441-442/444	147-148/147	-/AC	-/X

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	0	228	AGT:0.000e+00
Group B	0	170	AGT:0.000e+00
Group C	0	588	AGT:0.000e+00
Group D	0	872	AGT:0.000e+00
Group E	1	198	AGT:0.005
Group X	0	128	AGT:0.000e+00
All Thais	1	2184	AGT:0.000

Other Population frequencies from gnomAD

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Exomes
Genomes

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African
Ashkenazi Jewish
European (non-Finnish)
	Southern European
	North-western European
	Bulgarian
East Asian
	Japanese
	Korean
	Other East Asian
European (Finnish)
South Asian
Other

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African
Ashkenazi Jewish
European (non-Finnish)
	Southern European
	North-western European
	Bulgarian
East Asian
	Japanese
	Korean
	Other East Asian
European (Finish)
South Asian
Other

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	1.970
ClippingRankSum	0.000
DP	39041
FS	0.000
InbreedingCoeff	-0.001
MQ	60.000
MQRankSum	0.000
QD	14.730
ReadPosRankSum	0.895
SiteQuality	986.62
SOR	0.666
VQSLOD	5.870