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: rs201257588
rs201257588
TBC1D24
9 0.882 0.280 16 2496206 stop gained C/G;T snv 6.0E-05 0.800 1.000 2 2014 2014
dbSNP: rs398122965
rs398122965
TBC1D24
13 0.807 0.280 16 2496872 missense variant C/T snv 1.2E-05 2.8E-05 0.800 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.800 1.000 2 2014 2014
dbSNP: rs747821285
rs747821285
TBC1D24
9 0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 0.800 1.000 2 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: rs398122967
rs398122967
TBC1D24
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 1.000 2 2014 2014
dbSNP: rs398122968
rs398122968
TBC1D24
9 0.882 0.280 16 2499425 splice region variant G/A snv 0.700 1.000 2 2014 2014
dbSNP: rs760474458
rs760474458
TBC1D24
9 0.882 0.280 16 2496267 missense variant G/A;C;T snv 4.0E-06; 2.0E-05; 4.0E-06 0.700 1.000 2 2014 2014
dbSNP: rs797044548
rs797044548
TBC1D24
9 0.882 0.280 16 2498253 missense variant G/T snv 0.700 1.000 2 2014 2014
dbSNP: rs797044547
rs797044547
TBC1D24
1 1.000 0.280 16 2496461 missense variant T/C snv 0.700 0
dbSNP: rs797044549
rs797044549
TBC1D24
1 1.000 0.280 16 2500424 frameshift variant -/A delins 0.700 0