Variant: rs749435317 

    present in Gene: TMEM67
    present in Chromosome: 8
    Position on Chromosome: 93786287
    Alleles of this Variant: A/-

rs749435317 in TMEM67 gene and Bardet-Biedl syndrome 1 (disorder) PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

rs749435317 in TMEM67 gene and COACH syndrome PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

rs749435317 in TMEM67 gene and JOUBERT SYNDROME 6 PMID 16415887 2006 The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.