Variant: rs1131691490 

    present in Gene: SPINK5
    present in Chromosome: 5
    Position on Chromosome: 148065374
    Alleles of this Variant: T/A

rs1131691490 in SPINK5 gene and Ichthyosis linearis circumflexa PMID 11841556 2002 Netherton syndrome: disease expression and spectrum of SPINK5 mutations in 21 families.

PMID 11511292 2001 The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis.