Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057519291
rs1057519291
ATP13A2
1 1.000 1 16993828 missense variant G/A snv 0.800 0
dbSNP: rs758014228
rs758014228
ATP13A2
2 0.925 0.040 1 17004690 splice donor variant A/C snv 5.6E-05 9.1E-05 0.700 1.000 2 2006 2012
dbSNP: rs1057519289
rs1057519289
ATP13A2
1 1.000 1 16986346 stop gained G/A snv 0.700 0
dbSNP: rs1057519290
rs1057519290
ATP13A2
1 1.000 1 16986886 inframe deletion AGA/- delins 0.700 0
dbSNP: rs1057519292
rs1057519292
ATP13A2
1 1.000 1 17004805 stop gained G/A snv 0.700 0
dbSNP: rs1057519293
rs1057519293
ATP13A2
1 1.000 1 16996262 stop gained G/A snv 8.0E-06 0.700 0
dbSNP: rs773246271
rs773246271
ATP13A2
2 0.925 0.040 1 16992345 stop gained G/A snv 4.1E-06 2.8E-05 0.700 0