CD27, CD27 molecule, 939

N. diseases: 154; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514667
rs397514667
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		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
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		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
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		0.810 GeneticVariation UNIPROT CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. 22197273 2012
dbSNP: rs397514667
rs397514667
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		A 0.810 CausalMutation CLINVAR
dbSNP: rs398122933
rs398122933
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs748418658
rs748418658
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs779092602
rs779092602
Entrez Id: 939;55080;678655
Gene Symbol: CD27;TAPBPL;CD27-AS1
CD27;TAPBPL;CD27-AS1
CUI: C3554540
Disease:
LYMPHOPROLIFERATIVE SYNDROME 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs2267966
rs2267966
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE In CD27, rs3136550 CT and rs2267966 AT genotypes were associated with a decreased risk of breast cancer (P = 0.03, OR = 0.76; P = 0.02, OR = 0.75, respectively). 22399187 2012
dbSNP: rs2267966
rs2267966
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE In CD27, rs3136550 CT and rs2267966 AT genotypes were associated with a decreased risk of breast cancer (P = 0.03, OR = 0.76; P = 0.02, OR = 0.75, respectively). 22399187 2012
dbSNP: rs3136550
rs3136550
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C0678222
Disease:
Breast Carcinoma 		0.010 GeneticVariation BEFREE In CD27, rs3136550 CT and rs2267966 AT genotypes were associated with a decreased risk of breast cancer (P = 0.03, OR = 0.76; P = 0.02, OR = 0.75, respectively). 22399187 2012
dbSNP: rs3136550
rs3136550
Entrez Id: 939;678655
Gene Symbol: CD27;CD27-AS1
CD27;CD27-AS1
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.010 GeneticVariation BEFREE In CD27, rs3136550 CT and rs2267966 AT genotypes were associated with a decreased risk of breast cancer (P = 0.03, OR = 0.76; P = 0.02, OR = 0.75, respectively). 22399187 2012