Skip to main content
. Author manuscript; available in PMC: 2015 Oct 1.
Published in final edited form as: J Invest Dermatol. 2014 Dec 10;135(4):1177–1180. doi: 10.1038/jid.2014.517

Table 1.

Performance of the rs4406273-A allele as a surrogate for HLA-C*06:02.

Variable Michigan sample (10,018 alleles) Pakistan sample (1,670 alleles) Thailand sample (614 alleles)
frequency HLA-C*06:02 0.1624 (0.1553–0.1698)1 0.1725 (0.1551–0.1913) 0.1303 (0.1060–0.1592)
frequency rs4406273-A 0.1612 (0.1541–0.1685) 0.1683 (0.1511–0.1870) 0.1336 (0.1089–0.1628)
D′ measure of LD 0.9963 (0.9927–0.9993) 0.9870 (0.9710–1.0000) 1.0000 (1.0000–1.0000)
r2 measure of LD 0.9839 (0.9769–0.9903) 0.9456 (0.9150–0.9722) 0.9706 (0.9255–1.0000)
genotype concordance 0.9956 (0.9934–0.9971) 0.9844 (0.9736–0.9909) 0.9935 (0.9766–0.9988)
sensitivity 0.9896 (0.9833–0.9935) 0.9653 (0.9373–0.9810) 1.0000 (0.9542–1.0000)
specificity 0.9994 (0.9986–0.9997) 0.9978 (0.9936–0.9994) 0.9963 (0.9864–0.9993)
PPV 0.9969 (0.9928–0.9987) 0.9893 (0.9691–0.9971) 0.9756 (0.9154–0.9957)
NPV 0.9980 (0.9968–0.9987) 0.9928 (0.9868–0.9961) 1.0000 (0.9928–1.0000)
accuracy 0.9978 (0.9967–0.9985) 0.9922 (0.9867–0.9954) 0.9967 (0.9882–0.9994)
MCC 0.9919 (0.9885–0.9953) 0.9726 (0.9579–0.9875) 0.9859 (0.9667–1.0000)

Abbreviations: LD, linkage disequilibrium; PPV, positive predictive value; NPV, negative predictive value; MCC, Matthews correlation coefficient

1

95% confidence intervals shown in parentheses for all values