Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs878854402
rs878854402
TBL1XR1
0.820 GeneticVariation BEFREE TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation. 30365874

2018
dbSNP: rs878854402
rs878854402
TBL1XR1
0.820 GeneticVariation BEFREE Exome sequencing revealed a de novo heterozygous sequence variant, p.Tyr446Cys, in TBL1XR1 that has previously been reported in six patients with Pierpont syndrome. 28687524

2017
dbSNP: rs878854402
rs878854402
TBL1XR1
0.820 GeneticVariation UNIPROT A specific mutation in TBL1XR1 causes Pierpont syndrome. 26769062

2016
dbSNP: rs878854402
rs878854402
TBL1XR1
C 0.820 CausalMutation CLINVAR

dbSNP: rs1553808301
rs1553808301
TBL1XR1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1553810255
rs1553810255
TBL1XR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1560098548
rs1560098548
TBL1XR1
T 0.700 GeneticVariation CLINVAR