Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0747251
Disease: Progressive spastic paraparesis
Progressive spastic paraparesis 		0.710 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0006625
Disease: Cachexia
Cachexia 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C4021577
Disease: Abnormality of somatosensory evoked potentials
Abnormality of somatosensory evoked potentials 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		0.700 1.000 1 2017 2017
dbSNP: rs778361520
rs778361520
ADGRB2
0.925 0.120 1 31728621 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		0.700 1.000 1 2017 2017