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: 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 2016
dbSNP: rs747538224
rs747538224
TBC1D24
3 0.925 0.040 16 2496993 missense variant C/G snv 1.8E-04 2.1E-05 0.700 1.000 2 2016 2017
dbSNP: rs1057524191
rs1057524191
TBC1D24
3 0.925 0.040 16 2496269 stop gained C/T snv 0.700 0
dbSNP: rs1555501140
rs1555501140
TBC1D24
3 0.925 0.040 16 2496319 frameshift variant C/- delins 0.700 0
dbSNP: rs1567413218
rs1567413218
TBC1D24
3 0.925 0.040 16 2498385 stop gained C/G snv 0.700 0
dbSNP: rs398122967
rs398122967
TBC1D24
12 0.827 0.280 16 2498262 frameshift variant T/- del 7.4E-05 4.9E-05 0.700 0