T-REx

Variant location (GRCh37) chr11:5247828

Variant class : SNV
Alleles : G/A
Existing ID : rs34515413&CM960817&CM960818&CD800007

Quality score : 480.69
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.5247828G>A	NM_000518.4:c.294C>T	NP_000509.1:p.His98=	344/626	294/444	98/147	caC/caT	H

Allele frequencies

Subpopulation	Allele count	Allele number	Allele frequency
Group A	0	228	A:0.000e+00
Group B	0	170	A:0.000e+00
Group C	0	588	A:0.000e+00
Group D	1	872	A:0.001
Group E	0	196	A:0.000e+00
Group X	0	128	A:0.000e+00
All Thais	1	2182	A:0.000

Other Population frequencies from gnomAD

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Exomes
Genomes

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		1	16256	0	6.15157e-05
Ashkenazi Jewish		94	10076	1	0.0093291
European (non-Finnish)
	Southern European	1	11502	0	8.69414e-05
	North-western European	6	42188	0	0.000142221
	Bulgarian	1	2670	0	0.000374532
East Asian		1	18382	0	5.4401e-05
	Japanese	0	152	0	0.0
	Korean	0	3806	0	0.0
	Other East Asian	1	18382	0	5.4401e-05
European (Finnish)		0	21648	0	0.0
South Asian		0	30616	0	0.0
Other		2	6132	0	0.000326158

Population		Allele Count	Allele Number	Number of Homozygotes	Allele Frequency
African		0	8708	0	0.0
Ashkenazi Jewish		3	290	0	0.0103448
European (non-Finnish)
	Southern European	0	106	0	0.0
	North-western European	2	8590	0	0.000232829
	Bulgarian
East Asian		0	1558	0	0.0
	Japanese
	Korean
	Other East Asian	0	1558	0	0.0
European (Finish)		0	3476	0	0.0
South Asian
Other		1	1088	0	0.000919118

Genotype Quality Metrics

Site Quality Metrics

Metric
BaseQRankSum	1.180
ClippingRankSum	0.000
DP	53607
FS	0.891
InbreedingCoeff	0.010
MQ	24.900
MQRankSum	0.000
QD	8.430
ReadPosRankSum	0.589
SiteQuality	480.69
SOR	0.824
VQSLOD	1.560