TABLE 1.
A partial list of human HSD17B13 genetic variants associated with NAFLD.
| Variant Id | Location | Change | Variant type | Alleles | Transcript change | Amino Acid change | Molecular consequences |
|---|---|---|---|---|---|---|---|
| rs10433937 | 4p13:87308948 | AAAAGCT [T/A/C/G]ATC | SNV | T > A, T > C, T > G | — | intron variant | |
| rs10433879 | 4p13:87309988 | GAAACCT [G/C]TCTCTA | SNV | G > C | — | — | intron variant |
| rs72613567 | 4p13:87310241–87310242 | TGTACTT [-/A]CTTCTGT | indel | dupA | — | — | splice donor variant |
| rs62305723 | 4p13:87310277 | TACGATG [G/A]AACAA | SNV | G > A | c.778C > T | Pro260Ser | missense variant |
| rs61748262 | 4p13:87317092 | CACTCAC [C/A/T]CAAA | SNV | C > A, C > T | c.450G > T, c.450G > A | Trp150Cys, Trp150Ter | missense variant, nonsense (stop gained) |
SNV, Single nucleotide variation; indel, Insertion and Deletion; dupA, duplicate Adenine. Data from NCBI Variation Viewer (http://www.ncbi.nlm.nih.gov/variation/view).