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 |
rs529612732
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
A multi-mutation of FOXL2, consisting of the expansion of the polyalanine tract from 14 to 24 residues (FOXL2-Ala24), an novel Y186C substitution from c.557A>G, and a synonymous variant (c.505G>A), had a cumulative effect on ovarian phenotypes in BPES patients.
|
22926839 |
2012 |
rs797044527
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044527
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|
rs387906920
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs1057516168
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
rs863225452
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
TGGCGATGAGCGCCAC |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs797044532
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
TGGGGGTGCGGCGGAGGC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044532
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044531
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044530
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
TGCGGCGGAGGCGGGGGTGCGGCC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044529
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
AGGCGGGGGTGCGGCCGG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044528
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs797044528
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
CG |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs764243782
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs759236439
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs672601359
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
GGAGGCGGGGGTGCGGCC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs672601358
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
GGCTGGGCTGGCAGGGCTGA |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs672601357
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
AGCGC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs387906321
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1559922829
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1559922782
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1559922657
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1559922647
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1559922634
|
|
BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|