ADAM22, ADAM metallopeptidase domain 22, 53616

N. diseases: 35; N. variants: 4
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs747259064
rs747259064 		1.000 7 88136013 missense variant G/A;T snv 8.1E-06 7.0E-06
CUI: C4693688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 		0.800 1.000 1 2016 2016
dbSNP: rs73202341
rs73202341 		7 88048209 intron variant A/C snv 2.5E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1554519462
rs1554519462 		1.000 7 88179030 frameshift variant G/- del
CUI: C4693688
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 61 		0.700 0
dbSNP: rs778672052
rs778672052 		0.925 0.120 7 88149056 missense variant A/G snv 8.1E-06
CUI: C0391958
Disease: Familial Epilepsies
Familial Epilepsies 		Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs778672052
rs778672052 		0.925 0.120 7 88149056 missense variant A/G snv 8.1E-06
CUI: C1838062
Disease: Autosomal Dominant Lateral Temporal Lobe Epilepsy
Autosomal Dominant Lateral Temporal Lobe Epilepsy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2019 2019