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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 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
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
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 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
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 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
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
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
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
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
54 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 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
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
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
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 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
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
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
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
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
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
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
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