NKX2-1, NK2 homeobox 1, 7080

N. diseases: 319; N. variants: 20
Disease: Benign Hereditary Chorea ×
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: rs137852694
rs137852694 		1.000 0.080 14 36517739 stop gained G/A snv
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555349146
rs1555349146 		1.000 0.080 14 36517434 frameshift variant C/- del
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs28936671
rs28936671 		1.000 0.080 14 36517757 missense variant G/T snv
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs28936672
rs28936672 		1.000 0.080 14 36517771 stop gained C/A;T snv
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs387906404
rs387906404 		1.000 0.080 14 36517576 frameshift variant C/- delins
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587776708
rs587776708 		0.925 0.240 14 36518022 splice acceptor variant T/A;C snv
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs137852693
rs137852693 		0.925 0.240 14 36517871 stop gained C/A;G snv 4.1E-06
CUI: C0393584
Disease: Benign Hereditary Chorea
Benign Hereditary Chorea 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2005 2005