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.
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 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
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
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
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
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 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
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
Constipation
CUI: C0009806
Disease: Constipation
57 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
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
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Esotropia
CUI: C0014877
Disease: Esotropia
39 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
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 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
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 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
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Hyperopia
CUI: C0020490
Disease: Hyperopia
29 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
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