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: rs397514713
rs397514713
TBC1D24
1 1.000 16 2496834 missense variant T/C snv 0.800 1.000 2 2013 2016
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: rs770820144
rs770820144
TBC1D24
1 1.000 16 2496486 missense variant C/A snv 1.2E-05 7.0E-06 0.700 1.000 2 2013 2016
dbSNP: rs863223337
rs863223337
TBC1D24
1 1.000 16 2496624 missense variant T/C snv 0.700 1.000 2 2013 2016
dbSNP: rs397514714
rs397514714
TBC1D24
1 1.000 16 2496616 stop gained C/A snv 0.700 0
dbSNP: rs398122941
rs398122941
TBC1D24
1 1.000 16 2497709 coding sequence variant GT/- delins 0.700 0
dbSNP: rs398122965
rs398122965
TBC1D24
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.700 0