rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.
|
19383720 |
2009 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Attenuation of Notch signalling by the Down-syndrome-associated kinase DYRK1A.
|
19383720 |
2009 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
|
26922654 |
2016 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature.
|
26922654 |
2016 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
|
21204217 |
2011 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical manifestations of the deletion of Down syndrome critical region including DYRK1A and KCNJ6.
|
21204217 |
2011 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
|
25707398 |
2016 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID.
|
25707398 |
2016 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
|
12192061 |
2002 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Dyrk1A haploinsufficiency affects viability and causes developmental delay and abnormal brain morphology in mice.
|
12192061 |
2002 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.
|
25944381 |
2015 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
|
25167861 |
2014 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.
|
22918246 |
2012 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Emerging role of DYRK family protein kinases as regulators of protein stability in cell cycle control.
|
22918246 |
2012 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.
|
12814361 |
2003 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Expression patterns and subcellular localization of the Down syndrome candidate protein MNB/DYRK1A suggest a role in late neuronal differentiation.
|
12814361 |
2003 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.
|
17237124 |
2007 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Familial 4.3 Mb duplication of 21q22 sheds new light on the Down syndrome critical region.
|
17237124 |
2007 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Function and regulation of Dyrk1A: towards understanding Down syndrome.
|
19685005 |
2009 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Function and regulation of Dyrk1A: towards understanding Down syndrome.
|
19685005 |
2009 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
|
21294719 |
2011 |
rs1555985642
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly.
|
21294719 |
2011 |
rs1555984304
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Molecular definition of a region of chromosome 21 that causes features of the Down syndrome phenotype.
|
2143053 |
1990 |