rs1555630216, PIEZO2

N. diseases: 22
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Abnormality of the humerus
CUI: C4021742
Disease: Abnormality of the humerus
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH
11 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Cerebellar Dysmetria
CUI: C0234162
Disease: Cerebellar Dysmetria
17 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Congenital clubfoot
CUI: C0009081
Disease: Congenital clubfoot
44 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Delayed fine motor development
CUI: C4023681
Disease: Delayed fine motor development
13 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Dysplasia of the femoral head
CUI: C4021251
Disease: Dysplasia of the femoral head
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Electromyogram abnormal
CUI: C0476403
Disease: Electromyogram abnormal
12 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Limited hip movement
CUI: C1851542
Disease: Limited hip movement
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Limited shoulder movement
CUI: C1851313
Disease: Limited shoulder movement
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Microstomia
CUI: C0026034
Disease: Microstomia
9 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Mild short stature
CUI: C3150077
Disease: Mild short stature
8 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Muscular hypotonia of the trunk
CUI: C1853743
Disease: Muscular hypotonia of the trunk
25 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Narrow nasal ridge
CUI: C1837761
Disease: Narrow nasal ridge
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Radial deviation of hand
CUI: C0575803
Disease: Radial deviation of hand
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Romberg's sign positive
CUI: C0240914
Disease: Romberg's sign positive
6 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Spondylolisthesis at L5-S1
CUI: C3275799
Disease: Spondylolisthesis at L5-S1
3 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Spondylolysis
CUI: C0038018
Disease: Spondylolysis
2 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Thoracolumbar scoliosis
CUI: C0749379
Disease: Thoracolumbar scoliosis
17 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0
Tooth Crowding
CUI: C0040433
Disease: Tooth Crowding
19 0.790 0.160 18 10714931 splice acceptor variant C/T snv 0.700 0