|
rs11154801
|
|
Multiple Sclerosis
|
|
0.810 |
GeneticVariation
|
BEFREE |
After adjustment for genetic ancestry, sex, age, vitamin D level, DMT use and HLA-DRB1*15 status, having two copies of the MS risk allele within AHI1 (rs11154801) was associated with increased relapses among children (HR = 1.75,95%CI = 1.18-2.48, p = 0.006) and this result was also observed among adults (HR = 1.81,95%CI = 1.05-3.03, p = 0.026).
|
29409597 |
2018 |
|
rs11154801
|
|
Multiple Sclerosis
|
A |
0.810 |
GeneticVariation
|
GWASCAT |
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.
|
24076602 |
2013 |
|
rs11154801
|
|
Multiple Sclerosis
|
A |
0.810 |
GeneticVariation
|
GWASCAT |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
rs11154801
|
|
Multiple Sclerosis
|
A |
0.810 |
GeneticVariation
|
GWASDB |
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
|
21833088 |
2011 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
|
23532844 |
2013 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
|
21623382 |
2011 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
|
16155189 |
2006 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
|
16453322 |
2006 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
|
15322546 |
2004 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
|
15467982 |
2004 |
|
rs121434350
|
|
JOUBERT SYNDROME 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
|
23532844 |
2013 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
|
21623382 |
2011 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
|
21623382 |
2011 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
|
16453322 |
2006 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
|
16155189 |
2006 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
|
15322546 |
2004 |
|
rs121434351
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
|
15467982 |
2004 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.
|
26092869 |
2015 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.
|
23532844 |
2013 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.
|
21623382 |
2011 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
|
16155189 |
2006 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
|
16453322 |
2006 |
|
rs397514726
|
|
JOUBERT SYNDROME 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
|
15467982 |
2004 |