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.
Neonatal hypoglycemia
CUI: C0158986
Disease: Neonatal hypoglycemia
13 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
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
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
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
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
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
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
Rhabdomyolysis
CUI: C0035410
Disease: Rhabdomyolysis
15 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Short palm
CUI: C1843108
Disease: Short palm
13 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
Sloping forehead
CUI: C1857679
Disease: Sloping forehead
5 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
Specific learning disability
CUI: C4025790
Disease: Specific learning disability
13 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Thickened nuchal skin fold
CUI: C1836940
Disease: Thickened nuchal skin fold
4 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
Warts
CUI: C3665596
Disease: Warts
3 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
Acute encephalopathy
CUI: C1306587
Disease: Acute encephalopathy
3 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 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
Oxidative Phosphorylation Deficiencies
CUI: C0949856
Disease: Oxidative Phosphorylation Deficiencies
1 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018