• T-REx Database

Variant location (GRCh37) chr11:5248159

  • Variant class : SNV
  • Alleles : C/A
  • Existing ID : rs33971440&CS991412&CS840007&CS023208&HbVar.818
  • Quality score : 4131.37
  • Filter : PASS

Annotations

Consequence Impact Gene HGVSg HGVSc HGVSp cDNA position CDS position Protein position Codons Amino acids SIFT score PolyPhen score
splice_donor_variant HIGH HBB chr11:g.5248159C>A NM_000518.4:c.92+1G>T

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 1 198 A:0.005
Group X 1 128 A:0.008
All Thais 3 2184 A: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 11490 0 0.0
North-western European 0 42170 0 0.0
Bulgarian 0 2670 0 0.0
East Asian 0 18378 0 0.0
Japanese 0 152 0 0.0
Korean 0 3802 0 0.0
Other East Asian 0 18378 0 0.0
European (Finnish) 0 21648 0 0.0
South Asian 18 30614 0 0.000587966
Other 0 6134 0 0.0
Population Allele Count Allele Number Number of Homozygotes Allele Frequency
African
Ashkenazi Jewish
European (non-Finnish)
Southern European
North-western European
Bulgarian
East Asian
Japanese
Korean
Other East Asian
European (Finish)
South Asian
Other


Genotype Quality Metrics

  • Genotype quality
  • Depth
  • Allele balance for heterozygotes

Site Quality Metrics

Metric
BaseQRankSum 1.350
ClippingRankSum 0.000
DP 54634
FS 0.374
InbreedingCoeff -0.001
MQ 60.000
MQRankSum 0.000
QD 10.680
ReadPosRankSum -0.006
SiteQuality 4131.37
SOR 0.726
VQSLOD 6.300


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