rs779092602
|
CD27;TAPBPL;CD27-AS1
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs748418658
|
CD27;CD27-AS1
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514667
|
CD27;CD27-AS1
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs398122933
|
CD27;CD27-AS1
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514667
|
CD27;CD27-AS1
|
LYMPHOPROLIFERATIVE SYNDROME 2
|
|
0.810 |
GeneticVariation |
UNIPROT |
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia.
|
22197273 |
2012 |
rs397514667
|
CD27;CD27-AS1
|
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 |
rs397514667
|
CD27;CD27-AS1
|
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 |
rs2267966
|
CD27;CD27-AS1
|
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 |
rs2267966
|
CD27;CD27-AS1
|
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 |
rs3136550
|
CD27;CD27-AS1
|
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 |
rs3136550
|
CD27;CD27-AS1
|
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 |