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Unraveling the Physiological Impact of ANGPTL8 Loss-of-Function Variants in Humans

Summary statistics and individual level data associated with PheWAS and phenotypic profiling of individuals with heterozygous loss of mutations in the gene ANGPTL8

Type: Population Genomics
Archive: European Genome-phenome Archive (EGA)

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002135	This dataset contains the genotypes status of rs774984872G>T, a loss of function variant in ANGPTL8. 8 individuals had the reference allele (G/G), 5 were heterozygous (G/T) and 1 was a knock out (T/T).		14

Publications	Citations
Unraveling the physiological impact of ANGPTL8 loss-of-function variants in humans. Abadi A, Chen YQ, Khalid S, Williams K, Zhen EY, Li H, Siegel R, Hartley M, Beyer TP, DeBowles D, Qian YW, Rahseed A, Khan MZ, Jahanzaib M, Mian MR, Sultana R, Jalal A, Abbas S, Muddassir A, Mohsin SN, Mukhtar S, Mahmood A, Ryan TP, Michael LF, Ruotolo G, Saleheen D, Wen Y, Konrad RJ, Bhatnagar P. Sci Rep 16: 2026 19900	1

Publications

Citations

Unraveling the physiological impact of ANGPTL8 loss-of-function variants in humans.
Abadi A, Chen YQ, Khalid S, Williams K, Zhen EY, Li H, Siegel R, Hartley M, Beyer TP, DeBowles D, Qian YW, Rahseed A, Khan MZ, Jahanzaib M, Mian MR, Sultana R, Jalal A, Abbas S, Muddassir A, Mohsin SN, Mukhtar S, Mahmood A, Ryan TP, Michael LF, Ruotolo G, Saleheen D, Wen Y, Konrad RJ, Bhatnagar P. Sci Rep 16: 2026 19900