Variant: rs303143 

    present in Gene: SPATA5
    present in Chromosome: 4
    Position on Chromosome: 123234042
    Alleles of this Variant: A/G

rs303143 in SPATA5 gene and Charcot-Marie-Tooth Disease, Type Ia (disorder) PMID 30706531 2019 Variation in SIPA1L2 is correlated with phenotype modification in Charcot- Marie- Tooth disease type 1A.