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: rs587777147
rs587777147
TBC1D24
1 1.000 16 2496356 missense variant G/T snv 4.0E-06 0.800 1.000 1 2014 2014
dbSNP: rs376712059
rs376712059
TBC1D24
5 0.827 0.280 16 2496605 stop gained G/A;C;T snv 6.9E-05; 8.1E-06; 4.1E-06 0.700 1.000 3 2015 2017
dbSNP: rs199700840
rs199700840
TBC1D24
1 1.000 16 2497026 missense variant G/A;C snv 1.9E-04; 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1567411469
rs1567411469
TBC1D24
2 0.925 16 2496494 stop gained A/T snv 0.700 0
dbSNP: rs878853232
rs878853232
TBC1D24
1 1.000 16 2496342 missense variant G/A;T snv 8.0E-06 0.700 0