Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 27065010

2016
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Phosphatidylserine increases IKBKAP levels in a humanized knock-in IKBKAP mouse model. 23515154

2013
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Genome-wide analysis of familial dysautonomia and kinetin target genes with patient olfactory ecto-mesenchymal stem cells. 22190446

2012
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. 16964593

2007
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. 12116234

2002
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 11179008

2001
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Familial dysautonomia is caused by mutations of the IKAP gene. 11179021

2001
dbSNP: rs111033171
rs111033171
ELP1
G 0.700 CausalMutation CLINVAR Statistical features of human exons and their flanking regions. 9536098

1998