rs864321670, ALDH18A1

N. diseases: 24
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.
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
4 0.763 0.320 10 95633012 missense variant C/T snv 0.800 1.000 2 2015 2016
CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
3 0.763 0.320 10 95633012 missense variant C/T snv 0.700 1.000 2 2015 2016
De Barsy syndrome
CUI: C0268354
Disease: De Barsy syndrome
12 0.763 0.320 10 95633012 missense variant C/T snv 0.700 1.000 2 2015 2016
Atrophy of quadriceps femoris muscle
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
1 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
15 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Depressive disorder
CUI: C0011581
Disease: Depressive disorder
297 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Generalized joint laxity
CUI: C1836308
Disease: Generalized joint laxity
6 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
11 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Headache
CUI: C0018681
Disease: Headache
75 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Low Back Pain
CUI: C0024031
Disease: Low Back Pain
11 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Lumbar hyperlordosis
CUI: C1184923
Disease: Lumbar hyperlordosis
8 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Muscle Weakness Lower Limb
CUI: C1836296
Disease: Muscle Weakness Lower Limb
15 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Neonatal respiratory distress
CUI: C4281993
Disease: Neonatal respiratory distress
34 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Paraparesis, Spastic
CUI: C0037771
Disease: Paraparesis, Spastic
37 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0
Spastic gait
CUI: C0231687
Disease: Spastic gait
9 0.763 0.320 10 95633012 missense variant C/T snv 0.700 0