ATP13A2, ATPase cation transporting 13A2, 23400

N. diseases: 160; N. variants: 31
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE ×
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: 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: 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: 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: rs773246271
rs773246271 		0.925 0.040 1 16992345 stop gained G/A snv 4.1E-06 2.8E-05
CUI: C4310662
Disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE 		0.700 0