rs104893653
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
12949970 |
2003 |
rs104893653
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
rs104893653
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
rs104893653
|
|
|
0.810 |
GeneticVariation |
BEFREE |
A previously described missense mutation in this same codon (Asn47His) is associated with Waardenburg syndrome type 3 (Hoth et al., 1993).
|
8664898 |
1996 |
rs104893651
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
rs104893651
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
rs104893651
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
12949970 |
2003 |
rs104893654
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
rs104893654
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
12949970 |
2003 |
rs104893654
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
rs1228590199
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Homozygosity for Waardenburg syndrome.
|
7726174 |
1995 |
rs1228590199
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.
|
12949970 |
2003 |
rs1228590199
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
|
8447316 |
1993 |
rs104893653
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104893651
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs104893654
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1559318494
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|