• T-REx Database

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

  • 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

  • Genotype quality
  • Depth
  • Allele balance for heterozygotes

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


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