rs867410737, ATP5F1D

N. diseases: 45
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 Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Oligohydramnios
CUI: C0079924
Disease: Oligohydramnios
21 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Recurrent urinary tract infection
CUI: C0262655
Disease: Recurrent urinary tract infection
21 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Weight less than 3rd percentile
CUI: C1844806
Disease: Weight less than 3rd percentile
27 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Poor suck
CUI: C1837142
Disease: Poor suck
31 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Small hand
CUI: C0575802
Disease: Small hand
31 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
32 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
42 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Nevus
CUI: C0027960
Disease: Nevus
43 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Electrocardiogram abnormal
CUI: C0522055
Disease: Electrocardiogram abnormal
54 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
56 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Mitochondrial Diseases
CUI: C0751651
Disease: Mitochondrial Diseases
84 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Short stature
CUI: C0349588
Disease: Short stature
292 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
509 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018