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Table 1 Allele frequency database prevalence and carrier frequency calculations

From: The global carrier frequency and genetic prevalence of Upshaw-Schulman syndrome

 

prevalence

carrier frequency

known and novel variants

known variants

known and novel variants

known variants

total

1.10152 (0.890567, 1.370326)

0.428407 (0.3357, 0.554897)

0.002097

0.001308

AFR

5.639105 (3.010004, 10.55961)

0.944298 (0.355737, 2.505441)

0.004738

0.001942

AMR

1.482111 (0.812177, 2.704048)

0.565474 (0.263468, 1.213389)

0.002432

0.001503

ASJ

0.046311 (0.003816, 0.561623)

0

0.00043

0

EAS

1.676507 (0.755126, 3.720573)

0.781969 (0.298701, 2.046257)

0.002586

0.001767

FIN

0.00864 (0.000654, 0.114046)

0

0.000186

0

NFE

1.143383 (0.595458, 1.961721)

0.593037 (0.239053, 1.177138)

0.002136

0.001539

SAS

1.121036 (0.56517, 2.22306)

0.436036 (0.183617, 1.035195)

0.002115

0.00132

OTH

0.731709 (0.138862, 3.850784)

0.107322 (0.008125, 1.415878)

0.001709

0.000655

  1. AFR African/African American, AMR Latino/Mixed American, ASJ Ashkenazi Jewish, EAS East Asian, FIN Finnish, NFE Non-Finnish European, SAS South Asian, OTH Other