rs780533096, MIPEP

N. diseases: 44
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.
Arnold-Chiari Malformation, Type I
CUI: C0750929
Disease: Arnold-Chiari Malformation, Type I
1 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Low grade fever
CUI: C0239574
Disease: Low grade fever
1 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Persistent lactic acidosis
CUI: C3554538
Disease: Persistent lactic acidosis
1 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Reduced subcutaneous adipose tissue
CUI: C1857657
Disease: Reduced subcutaneous adipose tissue
1 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Ankyloglossia
CUI: C0152415
Disease: Ankyloglossia
2 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Obstruction of nasolacrimal duct
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
2 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Falls
CUI: C0085639
Disease: Falls
3 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Unexplained fevers
CUI: C1844662
Disease: Unexplained fevers
4 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Tachypnea
CUI: C0231835
Disease: Tachypnea
5 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 31
7 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Choreoathetosis
CUI: C0085583
Disease: Choreoathetosis
9 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Lipoma
CUI: C0023798
Disease: Lipoma
9 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Port-Wine Stain
CUI: C0235752
Disease: Port-Wine Stain
10 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Recurrent pneumonia
CUI: C0694550
Disease: Recurrent pneumonia
11 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Bilateral ptosis
CUI: C1865916
Disease: Bilateral ptosis
14 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Drooling
CUI: C0013132
Disease: Drooling
14 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
15 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Coughing
CUI: C0010200
Disease: Coughing
16 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Laryngomalacia
CUI: C0264303
Disease: Laryngomalacia
18 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
20 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Maternal hypertension
CUI: C0565599
Disease: Maternal hypertension
22 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Broad-based gait
CUI: C0856863
Disease: Broad-based gait
24 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0