rs104893739
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs104893741
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516139
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516140
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516141
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516142
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516142
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516144
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516145
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516149
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516150
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516151
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516153
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516156
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516157
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516158
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516159
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516161
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
TG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516163
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516164
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516165
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516166
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
AGGAGGCATAGGGCATGGGTGAG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516167
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516168
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
|
0.710 |
GeneticVariation
|
BEFREE |
DNA sequence analysis showed that the BPES phenotype in this family was caused by a novel missense mutation, c.881A->G (p.Y215C).
|
15257268 |
2004 |
rs1057516168
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|