rs74315431, VAPB

N. diseases: 15
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.
AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
CUI: C1837728
Disease: AMYOTROPHIC LATERAL SCLEROSIS 8 (disorder)
2 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.820 1.000 15 2004 2016
Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
CUI: C1866777
Disease: Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant
1 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.700 1.000 11 2004 2016
SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
CUI: C1854058
Disease: SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE
1 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.700 1.000 1 2004 2004
AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL
CUI: C1854059
Disease: AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL
1 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.700 0
Amyotrophic Lateral Sclerosis
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
485 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.100 0.944 18 2006 2019
Motor Neuron Disease
CUI: C0085084
Disease: Motor Neuron Disease
52 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.030 1.000 3 2010 2015
AMYOTROPHIC LATERAL SCLEROSIS 1
CUI: C1862939
Disease: AMYOTROPHIC LATERAL SCLEROSIS 1
139 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.020 1.000 2 2009 2017
Amyotrophic Lateral Sclerosis, Familial
CUI: C4551993
Disease: Amyotrophic Lateral Sclerosis, Familial
68 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.020 1.000 2 2010 2013
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1 2013 2013
Motor Neuron Disease, Lower
CUI: C0270764
Disease: Motor Neuron Disease, Lower
7 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
Pain
CUI: C0030193
Disease: Pain
196 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2013 2013
Tremor
CUI: C0040822
Disease: Tremor
52 0.732 0.080 20 58418318 missense variant C/T snv 4.0E-06 0.010 1.000 1 2016 2016