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.
SPINOCEREBELLAR ATAXIA 28
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
11 0.742 0.320 18 12337505 missense variant C/T snv 0.800 1.000 7 2010 2017
Abnormal gallbladder function
CUI: C0232769
Disease: Abnormal gallbladder function
1 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Abnormal ocular motility
CUI: C0497202
Disease: Abnormal ocular motility
6 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Arthralgia
CUI: C0003862
Disease: Arthralgia
27 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Birth length less than 3rd percentile
CUI: C1855650
Disease: Birth length less than 3rd percentile
13 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Bradykinesia
CUI: C0233565
Disease: Bradykinesia
16 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Diplopia
CUI: C0012569
Disease: Diplopia
5 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Gait imbalance
CUI: C1836150
Disease: Gait imbalance
24 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Hemiplegia/hemiparesis
CUI: C0375206
Disease: Hemiplegia/hemiparesis
2 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Hiatal Hernia
CUI: C3489393
Disease: Hiatal Hernia
3 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Hypercalciuria
CUI: C0020438
Disease: Hypercalciuria
5 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Keratoconjunctivitis Sicca
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
3 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
16 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Osteopenia
CUI: C0029453
Disease: Osteopenia
61 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Parotitis
CUI: C0030583
Disease: Parotitis
2 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
Serum lipids high (finding)
CUI: C0428465
Disease: Serum lipids high (finding)
7 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010