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Table 2 Variants with disease-associated reference alleles in thrombophilia genes

From: Challenges imposed by minor reference alleles on the identification and reporting of clinical variants from exome data

Gene Variant Minor Allele Frequency Reference alleles Disease allele ClinVar variants
1000G ExAC Allele hg19 hg38
F5 rs6025 0.0060 0.0215 T T C A c.1601G > A, c.1601G=
F13B rs6003 0.2382 0.1280 C C C G c.344G > A
PLAU rs2227564 0.2246 0.2454 T T T T c.371C > T
NOS3 rs1799983 0.1763 0.2470 T T T T c.894 T > G