rs778361520, ADGRB2

N. diseases: 9
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.
Progressive spastic paraparesis
CUI: C0747251
Disease: Progressive spastic paraparesis
3 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.710 1.000 1 2017 2017
Abnormality of somatosensory evoked potentials
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
1 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Cachexia
CUI: C0006625
Disease: Cachexia
11 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Fecal Incontinence
CUI: C0015732
Disease: Fecal Incontinence
12 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Gait abnormality
CUI: C0575081
Disease: Gait abnormality
23 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Increased CSF protein
CUI: C1806780
Disease: Increased CSF protein
1 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Urinary Incontinence
CUI: C0042024
Disease: Urinary Incontinence
14 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.700 1.000 1 2017 2017
Neurologic Symptoms
CUI: C0235031
Disease: Neurologic Symptoms
30 0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05 0.010 1.000 1 2017 2017