Variant: rs143149764 

    present in Gene: B9D1
    present in Chromosome: 17
    Position on Chromosome: 19347782
    Alleles of this Variant: A/G

rs143149764 in B9D1 gene and Familial aplasia of the vermis PMID 21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.

rs143149764 in B9D1 gene and Meckel-Gruber syndrome PMID 21493627 2011 B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis.