Locus Disease/trait Species Gene # Length (kb) Variants Built Publications
ACE2 COVID-19 H. sapiens 1 115-180 2 Zhang et al., Nature 2023
CACNA1C Schizophrenia H. sapiens 1 150 0
CLU Alzheimer Disease H. sapiens 2 111 2
Mole gene Mammalian Intersexuality T. occidentalis 1 120 1
Fly TAD Transcriptional Regulation D. melanogaster 1 100 4
H19/Igf2 Enhancer Selectivity M. musculus 2 157 47 Ordoñez et al., Mol Cell 2024
HBA1 (α-globin) Alpha-Thalassemia M. musculus 1 90 29
HoxA (rat) Embryonic Development R. norvegicus 11 170 32 Pinglay,Bulajic et al., Science 2022
HoxA (mouse) Embryonic Development M. musculus 11 170 2
HPRT1 Lesch-Nyhan Syndrome H. sapiens 1 101 1 Mitchell et al., Genetics 2021
HPRT1R Genomes default state n/a 1 101 1 Camellato et al., Nature 2024
HTRA1 Age-Related Macular Degeneration H. sapiens 2 119 148+ Laurent et al., Precision Clinical Medicine 2019
IRF5 Systemic Lupus Erythematosus H. sapiens 1 37-104 18
NKX6-3/ANK1 Type 2 Diabetes H. sapiens 2 52 2
Pax6 Eye Development T. rubripes (Fugu) 3 82 0
RET Hirschsprung Disease H. sapiens 1 60-179 4
Sox2 Embryonic Development M. Musculus 1 41-142 83 Brosh, Laurent et al., PNAS 2021; Brosh et al., Mol Cell 2023
Synthetic Locus Transcriptional Regulation M. Musculus n/a 53-180 0
TAF1 X-linked dystonia-parkinsonism H. sapiens 1 77 4
TMPRSS2 COVID-19 H. sapiens 1 80 1 Zhang et al., Nature 2023
Trp53 Cancer M. musculus 1 22-115 5 Zhang et al., Nature 2023
TP53 Cancer H. sapiens 2 47 1
Xist X chromosome inactivation M. Musculus 1 25-200 5