|
rs1277243795
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Among these, c.3727G>A (SNP) was reported in the Wilson Disease Mutation Database by our group.
|
26215059 |
2015 |
|
rs2147363
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An LD analysis revealed the presence of an LD between rs2147363 and a Wilson's disease-causing variant, rs7334118.
|
23948886 |
2013 |
|
rs1061472
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Moreover, very recent data addressing molecular processes underlying copper dysfunction in AD have indicated that genetic variations of K832R and R952K Single Nucleotide Polymorphisms (SNPs) of the Wilson's disease gene ATP7B are associated also with sporadic AD.
|
22565015 |
2012 |
|
rs1260868219
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We genotyped the two 5,10-methylenetetrahydrofolate reductase (one of the key folate/Hcy pathway enzymes) gene (MTHFR) polymorphisms: C677T and A1298C in 245 WND patients.
|
21334398 |
2011 |
|
rs398123136
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The p.L770L/p.R778L status in 660 subjects was determined to estimate WD prevalence.
|
18034201 |
2008 |
|
rs1173623580
|
|
|
0.020 |
GeneticVariation |
BEFREE |
However, the clinical manifestations of WD did not differ significantly in patients with the Arg778Leu and Pro992Leu mutations.
|
27706781 |
2016 |
|
rs772464343
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
|
25390358 |
2014 |
|
rs1173623580
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The most frequent ATP7B mutation was c.2333 G>T (p.Arg778Leu), followed by c.2975 C>T (p.Pro992Leu), which accounted for 63.6% of the WND mutated alleles.
|
23275100 |
2013 |
|
rs772464343
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The most common mutations that accounted for the molecular defect in 71.3% of WD chromosomes were H1069Q (48.9%), 2304-2305insC (11.4%), R616Q (5.7%), and A1003T (5.7%).
|
12885331 |
2003 |
|
rs732774
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We show that SNPs in the Wilson disease gene, ATP7B, that produce amino-acid substitutions K832R and R952K, modulate ATP7B properties in vitro and influence serum copper (Cu) status in vivo.
|
31070637 |
2019 |
|
rs732774
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Association of K832R and R952K SNPs of Wilson's disease gene with Alzheimer's disease.
|
22356903 |
2012 |
|
rs732774
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Moreover, very recent data addressing molecular processes underlying copper dysfunction in AD have indicated that genetic variations of K832R and R952K Single Nucleotide Polymorphisms (SNPs) of the Wilson's disease gene ATP7B are associated also with sporadic AD.
|
22565015 |
2012 |
|
rs1021025464
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.
|
30087448 |
2018 |
|
rs1331370011
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
High genetic carrier frequency of Wilson's disease in France: discrepancies with clinical prevalence.
|
30097039 |
2018 |
|
rs1566598496
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
rs749363958
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identification and characterization of a novel 43-bp deletion mutation of the ATP7B gene in a Chinese patient with Wilson's disease: a case report.
|
29649982 |
2018 |
|
rs1212479289
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1217463955
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1365425480
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs137853279
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1416453532
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1423701688
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1487547257
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1555282678
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
rs1555282751
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |