rs61755320, SPG7

N. diseases: 41
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.
Gross motor impairment
CUI: C0556280
Disease: Gross motor impairment
2 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Hand muscle weakness
CUI: C0239831
Disease: Hand muscle weakness
1 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Herniation of intervertebral nuclei
CUI: C1832597
Disease: Herniation of intervertebral nuclei
2 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Hydronephrosis
CUI: C0020295
Disease: Hydronephrosis
18 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Increased muscle fatiguability
CUI: C4025573
Disease: Increased muscle fatiguability
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Intervertebral Disc Degeneration
CUI: C0158266
Disease: Intervertebral Disc Degeneration
47 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Limb dysmetria
CUI: C1854489
Disease: Limb dysmetria
6 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Muscle Weakness
CUI: C0151786
Disease: Muscle Weakness
87 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Poor fine motor coordination
CUI: C1867864
Disease: Poor fine motor coordination
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Primary Caesarian section
CUI: C4072903
Disease: Primary Caesarian section
15 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
21 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Vertigo
CUI: C0042571
Disease: Vertigo
35 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Weight decreased
CUI: C1262477
Disease: Weight decreased
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0