Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1193888919
rs1193888919
SASS6
GT 0.700 GeneticVariation CLINVAR Molecular and cellular basis of autosomal recessive primary microcephaly. 25548773

2014
dbSNP: rs1193888919
rs1193888919
SASS6
GT 0.700 GeneticVariation CLINVAR A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542

2014
dbSNP: rs1193888919
rs1193888919
SASS6
GT 0.700 GeneticVariation CLINVAR Structures of SAS-6 suggest its organization in centrioles. 21273447

2011
dbSNP: rs1193888919
rs1193888919
SASS6
GT 0.700 GeneticVariation CLINVAR Structural basis of the 9-fold symmetry of centrioles. 21277013

2011