ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
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: rs1057519291
rs1057519291 		1.000 1 16993828 missense variant G/A snv
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.800 0
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: rs1303653650
rs1303653650 		1.000 1 16996059 stop gained G/A snv 1.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 2006 2014
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: rs3738814
rs3738814 		1 17005181 intron variant A/G snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 3 2010 2019
dbSNP: rs758014228
rs758014228 		0.925 0.040 1 17004690 splice donor variant A/C snv 5.6E-05 9.1E-05
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 1.000 2 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: rs2076603
rs2076603 		1 16992516 synonymous variant G/A;C snv 0.56
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs3170740
rs3170740 		1 16986248 missense variant C/T snv 0.47 0.41
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3738814
rs3738814 		1 17005181 intron variant A/G snv 0.52
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs3738814
rs3738814 		1 17005181 intron variant A/G snv 0.52
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs4920605
rs4920605 		1 16988930 intron variant G/A snv 0.46
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4920608
rs4920608 		1 16992792 intron variant C/T snv 0.55
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
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: rs1057519289
rs1057519289 		1.000 1 16986346 stop gained G/A snv
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1057519290
rs1057519290 		1.000 1 16986886 inframe deletion AGA/- delins
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1057519292
rs1057519292 		1.000 1 17004805 stop gained G/A snv
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 0
dbSNP: rs1057519293
rs1057519293 		1.000 1 16996262 stop gained G/A snv 8.0E-06
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 0
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