rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
|
7649549 |
1995 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Application of molecular genetics for diagnosing familial hypercholesterolemia in Norway: results from a family-based screening program.
|
15199436 |
2004 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
|
10735632 |
2000 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
|
19446849 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
|
22698793 |
2012 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic mutations in patients with possible familial hypercholesterolaemia in South East Scotland.
|
22859806 |
2012 |
rs750518671
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Mutations that were previously reported to be disease causing were identified in eight of nine individuals with FH and both cell lines (V502M, C146X, E207X, C660X, C646Y, and delG197), but none were found in controls.
|
12406975 |
2002 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
rs750518671
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
|
19411563 |
2009 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Mutations in the low-density lipoprotein receptor gene in Chinese familial hypercholesterolemia patients.
|
9763532 |
1998 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs750518671
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.
|
10735632 |
2000 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The molecular basis of familial hypercholesterolemia in The Netherlands.
|
11810272 |
2001 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypercholesterolaemia in Portugal.
|
17765246 |
2008 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Familial hypercholesterolemia in St-Petersburg: the known and novel mutations found in the low density lipoprotein receptor gene in Russia.
|
15701167 |
2005 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Genetic heterogeneity of autosomal dominant hypercholesterolemia in Mexico.
|
16314194 |
2006 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.
|
20538126 |
2010 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
|
21310417 |
2011 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.
|
12436241 |
2002 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
|
20145306 |
2010 |
rs750518671
|
|
T |
0.710 |
GeneticVariation |
CLINVAR |
Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.
|
19411563 |
2009 |
rs750518671
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
|
23375686 |
2013 |
rs750518671
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.
|
7649549 |
1995 |