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 0.700 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 0.700 1.000 2 2014 2014
dbSNP: rs398122966
rs398122966
TBC1D24
9 0.882 0.280 16 2496266 missense variant C/T snv 8.0E-06 0.700 1.000 2 2014 2014
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: rs747821285
rs747821285
TBC1D24
9 0.882 0.280 16 2496476 missense variant G/A snv 4.1E-06 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: rs1553212868
rs1553212868
POGZ
17 0.807 0.280 1 151406264 frameshift variant G/- delins 0.700 0
dbSNP: rs1555706928
rs1555706928
SETBP1
8 0.851 0.240 18 44951954 missense variant G/A snv 0.700 0
dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
35 0.701 0.560 10 76891709 missense variant T/C snv 0.700 0