rs1563221666, SFTPC

N. diseases: 14
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.
Congenital peripheral neuropathy
CUI: C4024967
Disease: Congenital peripheral neuropathy
1 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Disorder of skeletal muscle
CUI: C1533847
Disease: Disorder of skeletal muscle
10 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Infantile axial hypotonia
CUI: C3806604
Disease: Infantile axial hypotonia
8 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Lung Diseases, Interstitial
CUI: C0206062
Disease: Lung Diseases, Interstitial
144 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Proximal muscle weakness in upper limbs
CUI: C1866012
Disease: Proximal muscle weakness in upper limbs
3 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Pulmonary Alveolar Proteinosis
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
7 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Respiratory distress
CUI: C0476273
Disease: Respiratory distress
16 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Respiratory insufficiency due to muscle weakness
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
3 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0
Restrictive ventilatory defect
CUI: C3277226
Disease: Restrictive ventilatory defect
8 0.882 0.120 8 22162694 missense variant C/T snv 0.700 0