rs104894848
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
X-chromosome inactivation in female patients with Fabry disease.
|
25974833 |
2016 |
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
|
7531540 |
1994 |
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutational analysis of the GLA gene in Mexican families with Fabry disease.
|
28360401 |
2017 |
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
A case of Fabry's disease in a patient with no alpha-galactosidase A activity caused by a single amino acid substitution of Pro-40 by Ser.
|
2152885 |
1990 |
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Mutation analysis in 11 French patients with Fabry disease.
|
9452111 |
1998 |
rs104894831
|
|
A |
0.810 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs797044613
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs104894835
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
rs104894835
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: identification of 50 novel alpha-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations.
|
16595074 |
2006 |
rs104894835
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
|
7504405 |
1993 |
rs104894836
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs398123201
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
rs398123201
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Effects of a chemical chaperone on genetic mutations in alpha-galactosidase A in Korean patients with Fabry disease.
|
19287194 |
2009 |
rs398123201
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
8875188 |
1996 |
rs398123201
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs398123201
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
rs869312134
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs869312135
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs869312136
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs869312137
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs869312138
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs869312139
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
rs104894829
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555987101
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Fabry disease: 20 novel GLA mutations in 35 families.
|
11668641 |
2001 |