ATP7A, ATPase copper transporting alpha, 538

N. diseases: 348; N. variants: 107
Disease: Peripheral motor neuropathy ×
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: rs267606673
rs267606673 		0.776 0.240 X 78029314 missense variant C/T snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.040 1.000 4 2010 2016
dbSNP: rs267606672
rs267606672 		0.925 0.080 X 78045502 missense variant C/T snv
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.030 1.000 3 2010 2016
dbSNP: rs782665277
rs782665277 		1.000 0.040 X 78031563 missense variant T/C snv 5.5E-06
CUI: C0235025
Disease: Peripheral motor neuropathy
Peripheral motor neuropathy 		Nervous System Diseases 0.010 1.000 1 2016 2016