Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514667
rs397514667
CD27 ; CD27-AS1
0.810 GeneticVariation BEFREE We report the simultaneous confirmation of human CD27 deficiency in 3 independent families (8 patients) due to a homozygous mutation (p. Cys53Tyr) revealed by whole exome sequencing, leading to disruption of an evolutionarily conserved cystein knot motif of the transmembrane receptor. 22801960

2013
dbSNP: rs397514667
rs397514667
CD27 ; CD27-AS1
0.810 GeneticVariation UNIPROT We report the simultaneous confirmation of human CD27 deficiency in 3 independent families (8 patients) due to a homozygous mutation (p. Cys53Tyr) revealed by whole exome sequencing, leading to disruption of an evolutionarily conserved cystein knot motif of the transmembrane receptor. 22801960

2013
dbSNP: rs397514667
rs397514667
CD27 ; CD27-AS1
0.810 GeneticVariation UNIPROT CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 22197273

2012
dbSNP: rs397514667
rs397514667
CD27 ; CD27-AS1
A 0.810 CausalMutation CLINVAR

dbSNP: rs398122933
rs398122933
CD27 ; CD27-AS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs748418658
rs748418658
CD27 ; CD27-AS1
CA 0.700 CausalMutation CLINVAR

dbSNP: rs779092602
rs779092602
CD27 ; TAPBPL ; CD27-AS1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1211157801
rs1211157801
MS4A1
0.010 GeneticVariation BEFREE We report the simultaneous confirmation of human CD27 deficiency in 3 independent families (8 patients) due to a homozygous mutation (p. Cys53Tyr) revealed by whole exome sequencing, leading to disruption of an evolutionarily conserved cystein knot motif of the transmembrane receptor. 22801960

2013