Variant: rs888015688 

    present in Gene: EFEMP2
    present in Chromosome: 11
    Position on Chromosome: 65869977
    Alleles of this Variant: C/G

rs888015688 in EFEMP2 gene and CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB PMID 17937443 2007 Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.