Variant: rs1052954321 

    present in Gene: ALPK1
    present in Chromosome: 4
    Position on Chromosome: 112427580
    Alleles of this Variant: C/T

rs1052954321 in ALPK1 gene and ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and Optic nerve oedema PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and Retinal Dystrophies PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.

rs1052954321 in ALPK1 gene and Splenomegaly PMID 30967659 2019 ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder.