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.
Hyperkalemic periodic paralysis
CUI: C0238357
Disease: Hyperkalemic periodic paralysis
30 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.800 1.000 10 2004 2015
Normokalemic Periodic Paralysis, Potassium-Sensitive
CUI: C1868433
Disease: Normokalemic Periodic Paralysis, Potassium-Sensitive
27 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 8 2004 2015
Abnormal delivery
CUI: C0549629
Disease: Abnormal delivery
37 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
35 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Diminished movement
CUI: C4025710
Disease: Diminished movement
4 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Gastrostomy tube feeding in infancy
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
19 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Hypoplasia of mandibular condyle
CUI: C0399572
Disease: Hypoplasia of mandibular condyle
2 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Increased variability in muscle fiber diameter
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
4 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Intrauterine retardation
CUI: C1386048
Disease: Intrauterine retardation
56 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Low set ears
CUI: C0239234
Disease: Low set ears
64 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Small for gestational age (disorder)
CUI: C0235991
Disease: Small for gestational age (disorder)
34 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Ventricular Septal Defects
CUI: C0018818
Disease: Ventricular Septal Defects
87 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.700 1.000 2 2004 2008
Normokalemic Periodic Paralysis
CUI: C0268445
Disease: Normokalemic Periodic Paralysis
3 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.040 1.000 4 2008 2019
Hypokalemic periodic paralysis
CUI: C0238358
Disease: Hypokalemic periodic paralysis
19 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.010 1.000 1 2015 2015
Hypokalemic periodic paralysis type 1
CUI: C3714580
Disease: Hypokalemic periodic paralysis type 1
24 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.010 1.000 1 2015 2015
Paramyotonia Congenita (disorder)
CUI: C0221055
Disease: Paramyotonia Congenita (disorder)
26 0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 0.010 1.000 1 2015 2015