Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777695
rs587777695
ZSWIM6
T 0.800 GeneticVariation CLINVAR Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism. 26706854

2016
dbSNP: rs587777695
rs587777695
ZSWIM6
T 0.800 GeneticVariation CLINVAR Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 25105228

2014
dbSNP: rs587777695
rs587777695
ZSWIM6
T 0.800 CausalMutation CLINVAR Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 25105228

2014
dbSNP: rs587777695
rs587777695
ZSWIM6
0.800 GeneticVariation UNIPROT Exome sequencing identifies a recurrent de novo ZSWIM6 mutation associated with acromelic frontonasal dysostosis. 25105228

2014