rs1555630216
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Abnormality of the humerus
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555648288
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Abnormality of the humerus
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555630216
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Absent reflex
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555648288
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Absent reflex
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
A |
0.700 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
A |
0.700 |
CausalMutation |
CLINVAR |
Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects.
|
27974811 |
2017 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Arthrogryposis
|
T |
0.700 |
CausalMutation |
CLINVAR |
The genomic and clinical landscape of fetal akinesia.
|
31680123 |
2020 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777450
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs587777452
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs724159993
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.
|
24726473 |
2014 |
rs886039823
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs886039823
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519425
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519426
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
TTCG |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519626
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555630216
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555648288
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1568069621
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs757200280
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs886039821
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886039822
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs886039824
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555630216
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Cerebellar Dysmetria
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1555648288
|
Entrez Id: |
63895 |
Gene Symbol: |
PIEZO2 |
PIEZO2
|
Cerebellar Dysmetria
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|