ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: KUFOR-RAKEB SYNDROME ×
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: rs121918227
rs121918227 		0.925 0.040 1 16996008 missense variant C/G snv
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.800 1.000 11 2006 2017
dbSNP: rs144701072
rs144701072 		1.000 0.040 1 16988455 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.800 1.000 11 2006 2017
dbSNP: rs587777053
rs587777053 		1.000 0.040 1 16989739 missense variant A/C snv
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.800 1.000 11 2006 2017
dbSNP: rs137853967
rs137853967 		1.000 0.040 1 16986864 missense variant A/C snv
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.710 1.000 10 2006 2017
dbSNP: rs147277743
rs147277743 		0.925 0.040 1 16991749 missense variant C/T snv 1.8E-04 7.7E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.710 1.000 2 2013 2013
dbSNP: rs151117874
rs151117874 		0.925 0.040 1 17005754 missense variant G/A;C snv 9.4E-05; 4.1E-06
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 1.000 10 2006 2017
dbSNP: rs765632065
rs765632065 		1.000 0.040 1 16987072 frameshift variant G/- del 1.4E-04 7.0E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 1.000 4 2006 2012
dbSNP: rs758014228
rs758014228 		0.925 0.040 1 17004690 splice donor variant A/C snv 5.6E-05 9.1E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 1.000 2 2006 2012
dbSNP: rs150519745
rs150519745 		1.000 0.040 1 17000107 missense variant C/T snv 4.8E-05 4.9E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs749798211
rs749798211 		1.000 0.040 1 17004818 splice acceptor variant CTGGGGAAGCAGG/- delins 3.5E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs199624796
rs199624796 		1.000 0.040 1 17004399 missense variant G/A snv 4.0E-06 2.1E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 0
dbSNP: rs587776890
rs587776890 		1.000 0.040 1 16989747 frameshift variant AA/- delins
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 0
dbSNP: rs762033589
rs762033589 		1.000 0.040 1 16997112 frameshift variant -/CT delins 8.0E-06; 4.0E-06
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 0
dbSNP: rs773246271
rs773246271 		0.925 0.040 1 16992345 stop gained G/A snv 4.1E-06 2.8E-05
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 0
dbSNP: rs786205056
rs786205056 		1.000 0.040 1 16996381 splice region variant C/T snv
CUI: C1847640
Disease: KUFOR-RAKEB SYNDROME
KUFOR-RAKEB SYNDROME 		Nervous System Diseases 0.700 0