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: rs878853275
rs878853275
ATP6AP1 ; GDI1
1 1.000 X 154435762 missense variant G/A;T snv 0.800 1.000 1 2016 2016
dbSNP: rs878853276
rs878853276
ATP6AP1
1 1.000 X 154432333 missense variant T/C snv 0.800 1.000 1 2016 2016
dbSNP: rs878853277
rs878853277
ATP6AP1 ; GDI1
1 1.000 X 154435338 missense variant G/A snv 0.800 1.000 1 2016 2016
dbSNP: rs878853278
rs878853278
ATP6AP1 ; GDI1
1 1.000 X 154435153 missense variant A/G snv 0.800 1.000 1 2016 2016
dbSNP: rs1557196978
rs1557196978
ATP6AP1
8 0.851 0.120 X 154432444 missense variant T/G snv 0.700 1.000 1 2018 2018