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.
Cerebellar ataxia associated with quadrupedal gait
CUI: C4024175
Disease: Cerebellar ataxia associated with quadrupedal gait
1 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
Spastic Paraplegia Type 7
CUI: C3711370
Disease: Spastic Paraplegia Type 7
2 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2017 2017
Compression of spinal cord
CUI: C0037926
Disease: Compression of spinal cord
2 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
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
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
Spastic Ataxia
CUI: C1849156
Disease: Spastic Ataxia
3 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.010 1.000 1 2015 2015
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
CUI: C3151619
Disease: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION
3 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
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
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
Diffuse cerebellar atrophy
CUI: C1854699
Disease: Diffuse cerebellar atrophy
4 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Ankle clonus
CUI: C0238651
Disease: Ankle clonus
5 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
Dysdiadochokinesis
CUI: C0234979
Disease: Dysdiadochokinesis
7 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Abnormality of the optic nerve
CUI: C0029131
Disease: Abnormality of the optic nerve
11 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Cerebral cortical atrophy
CUI: C4551583
Disease: Cerebral cortical atrophy
13 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
14 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
Gait Ataxia
CUI: C0751837
Disease: Gait Ataxia
17 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
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
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
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 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