Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876661307
rs876661307
SASS6
CUI: C4225338
Disease: MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE
MICROCEPHALY 14, PRIMARY, AUTOSOMAL RECESSIVE 		0.800 GeneticVariation UNIPROT A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. 24951542

2014