T-REx

Variant location (GRCh37) chr11:5248173

Variant class : SNV
Alleles : C/T
Existing ID : rs33950507&CM820002&CM950610&CD024041&CS820003&HbVar.277

Quality score : 412254.66
Filter : PASS

Annotations

Consequence	Impact	Gene	HGVSg	HGVSc	HGVSp	cDNA position	CDS position	Protein position	Codons	Amino acids	SIFT score	PolyPhen score
missense_variant	MODERATE	HBB	chr11:g.5248173C>T	NM_000518.4:c.79G>A	NP_000509.1:p.Glu27Lys	129/626	79/444	27/147	Gag/Aag	E/K	tolerated(0.12)	possibly_damaging(0.843)

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	2	228	T:0.009
Group B	15	170	T:0.088
Group C	144	588	T:0.245
Group D	83	872	T:0.095
Group E	7	198	T:0.035
Group X	6	128	T:0.047
All Thais	257	2184	T:0.118

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	10078	0	0.0
European (non-Finnish)
	Southern European	0	11492	0	0.0
	North-western European	0	42154	0	0.0
	Bulgarian	0	2670	0	0.0
East Asian		24	18374	0	0.00130619
	Japanese	0	152	0	0.0
	Korean	0	3798	0	0.0
	Other East Asian	24	18374	0	0.00130619
European (Finnish)		0	21646	0	0.0
South Asian		35	30616	1	0.00114319
Other		2	6134	0	0.000326052

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		2	8712	0	0.000229568
Ashkenazi Jewish		0	290	0	0.0
European (non-Finnish)
	Southern European	0	106	0	0.0
	North-western European	0	8594	0	0.0
	Bulgarian
East Asian		0	1560	0	0.0
	Japanese
	Korean
	Other East Asian	0	1560	0	0.0
European (Finish)		0	3476	0	0.0
South Asian
Other		0	1088	0	0.0

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	-2.342
ClippingRankSum	0.000
DP	68349
FS	1.114
InbreedingCoeff	0.053
MQ	59.580
MQRankSum	0.000
QD	14.490
ReadPosRankSum	-0.059
SiteQuality	412254.66
SOR	0.789
VQSLOD	6.730