T-REx

Variant location (GRCh37) chr11:5246870

Variant class : SNV
Alleles : C/T
Existing ID : rs113082294

Quality score : 2044.15
Filter : PASS

Annotations

Consequence	Impact	Gene	HGVSg	HGVSc	HGVSp	cDNA position	CDS position	Protein position	Codons	Amino acids	SIFT score	PolyPhen score
synonymous_variant	LOW	HBB	chr11:g.5246870C>T	NM_000518.4:c.402G>A	NP_000509.1:p.Val134=	452/626	402/444	134/147	gtG/gtA	V

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	1	228	T:0.004
Group B	0	170	T:0.000e+00
Group C	0	588	T:0.000e+00
Group D	1	872	T:0.001
Group E	0	198	T:0.000e+00
Group X	0	128	T:0.000e+00
All Thais	2	2184	T:0.001

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	10074	0	0.0
European (non-Finnish)
	Southern European	0	11494	0	0.0
	North-western European	1	42160	0	2.37192e-05
	Bulgarian	0	2670	0	0.0
East Asian		2	18386	0	0.000108778
	Japanese	0	152	0	0.0
	Korean	0	3810	0	0.0
	Other East Asian	2	18386	0	0.000108778
European (Finnish)		0	21644	0	0.0
South Asian		0	30614	0	0.0
Other		0	6128	0	0.0

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		0	8708	0	0.0
Ashkenazi Jewish		0	290	0	0.0
European (non-Finnish)
	Southern European	0	106	0	0.0
	North-western European	0	8590	0	0.0
	Bulgarian
East Asian		1	1558	0	0.000641849
	Japanese
	Korean
	Other East Asian	1	1558	0	0.000641849
European (Finish)		0	3476	0	0.0
South Asian
Other		0	1086	0	0.0

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	3.040
ClippingRankSum	0.000
DP	39248
FS	9.738
InbreedingCoeff	0.002
MQ	60.000
MQRankSum	0.000
QD	10.170
ReadPosRankSum	-0.109
SiteQuality	2044.15
SOR	1.368
VQSLOD	5.570