# Genetic variants associated with physiological and biochemical indicators: A multi‐centre whole‐exome sequencing study of Chinese healthy participants

**Authors:** Zhe Wang, Zhiyan Liu, Guangyan Mu, Qiufen Xie, Shuang Zhou, Zining Wang, Yimin Cui, Qian Xiang

PMC · DOI: 10.1002/ctm2.70300 · Clinical and Translational Medicine · 2025-04-09

## Full-text entities

- **Genes:** CIMAP2 (ciliary microtubule associated protein 2) [NCBI Gene 163747] {aka C1orf177, LEM, LEXM}, TM4SF5 (transmembrane 4 L six family member 5) [NCBI Gene 9032], MST1P2 (macrophage stimulating 1 pseudogene 2) [NCBI Gene 11209] {aka MSPL-1, MSPL-2, MSPL-3, MSPL1, MSPL2, MSPL3}, OR8U1 (olfactory receptor family 8 subfamily U member 1) [NCBI Gene 219417], SLC17A5 (solute carrier family 17 member 5) [NCBI Gene 26503] {aka AST, ISSD, NSD, SD, SIALIN, SIASD}, NBPF10 (NBPF member 10) [NCBI Gene 100132406] {aka AB6, AG1}, TM6SF2 (transmembrane 6 superfamily member 2) [NCBI Gene 53345], ZNF646 (zinc finger protein 646) [NCBI Gene 9726], GPT (glutamic--pyruvic transaminase) [NCBI Gene 2875] {aka AAT1, ALT, ALT1, GPT1, SGPT}, ATP9A (ATPase phospholipid transporting 9A) [NCBI Gene 10079] {aka ATPIIA, NEDGBA}, MUC3A (mucin 3A, cell surface associated) [NCBI Gene 4584] {aka MUC-3A, MUC3}, PCNX3 (pecanex 3) [NCBI Gene 399909] {aka PCNXL3}, FRG1BP (FSHD region gene 1 family member B, pseudogene) [NCBI Gene 284802] {aka C20orf80, FRG1B, bA348I14.2}, SPRNP1 (shadow of prion protein pseudogene 1) [NCBI Gene 399833], OR2L13 (olfactory receptor family 2 subfamily L member 13) [NCBI Gene 284521] {aka OR2L14}, POLR1A (RNA polymerase I subunit A) [NCBI Gene 25885] {aka A190, AFDCIN, HLD27, RPA1, RPA190, RPA194}, BBS9 (Bardet-Biedl syndrome 9) [NCBI Gene 27241] {aka B1, C18, D1, PTHB1}, SDHAP2 (SDHA pseudogene 2) [NCBI Gene 727956] {aka SDHAL2, SDHALP2}, FRG1 (FSHD region gene 1) [NCBI Gene 2483] {aka FRG1A, FSG1}, MUC6 (mucin 6, oligomeric mucus/gel-forming (gene/pseudogene)) [NCBI Gene 4588] {aka MUC-6}, RBM19 (RNA binding motif protein 19) [NCBI Gene 9904] {aka Mrd1}, NBPF1 (NBPF member 1) [NCBI Gene 55672] {aka AB13, AB14, AB23, AD2, NBG, NBPF}, UBALD2 (UBA like domain containing 2) [NCBI Gene 283991] {aka FAM100B}, DHODH (dihydroorotate dehydrogenase (quinone)) [NCBI Gene 1723] {aka DHOdehase, POADS, URA1}
- **Diseases:** hepatocyte damage (MESH:D020263), chronic inflammation (MESH:D007249), TG (MESH:C566031), infectious diseases (MESH:D003141)
- **Chemicals:** TG (MESH:D014280), lipid (MESH:D008055), TC (-), Creatinine (MESH:D003404), cholesterol (MESH:D002784)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Mutations:** rs12801636, rs117916372, rs140898464, rs749671, rs61734664, T to C, rs712833, rs10788986, rs80334520, rs80068592, rs2288002, rs3901679, rs140801520, rs58542926, rs10486527, rs4146708

## Full text

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## Figures

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## References

9 references — full list in the complete paper: https://tomesphere.com/paper/PMC11982517/full.md

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Source: https://tomesphere.com/paper/PMC11982517