T-REx

Variant location (GRCh37) chr11:5247992

Variant class : deletion
Alleles : CAAAG/C
Existing ID : rs1235072590

Quality score : 18536.36
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.5247995_5247998del	NM_000518.4:c.126_129del	NP_000509.1:p.Phe42LeufsTer19	176-179/626	126-129/444	42-43/147	ttCTTT/tt	FF/X

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	0	228	C:0.000e+00
Group B	1	170	C:0.006
Group C	0	588	C:0.000e+00
Group D	6	872	C:0.007
Group E	2	198	C:0.010
Group X	0	128	C:0.000e+00
All Thais	9	2184	C:0.004

Other Population frequencies from gnomAD

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Exomes
Genomes

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		0	16256	0	0.0
Ashkenazi Jewish		0	10076	0	0.0
European (non-Finnish)
	Southern European	0	11502	0	0.0
	North-western European	0	42178	0	0.0
	Bulgarian	0	2670	0	0.0
East Asian		43	18376	0	0.00234001
	Japanese	0	152	0	0.0
	Korean	0	3800	0	0.0
	Other East Asian	43	18376	0	0.00234001
European (Finnish)		0	21644	0	0.0
South Asian		27	30616	0	0.000881892
Other		0	6134	0	0.0

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		0	8700	0	0.0
Ashkenazi Jewish		0	290	0	0.0
European (non-Finnish)
	Southern European	0	106	0	0.0
	North-western European	0	8596	0	0.0
	Bulgarian
East Asian		3	1560	0	0.00192308
	Japanese
	Korean
	Other East Asian	3	1560	0	0.00192308
European (Finish)		0	3476	0	0.0
South Asian
Other		0	1088	0	0.0

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	0.697
ClippingRankSum	0.000
DP	53982
FS	3.221
InbreedingCoeff	-35.777
MQ	58.410
MQRankSum	-0.252
QD	17.340
ReadPosRankSum	0.763
SiteQuality	18536.36
SOR	0.893
VQSLOD	0.997