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: rs1057517843
rs1057517843
TUBA1A
2 1.000 0.240 12 49185725 missense variant C/A;T snv 0.700 0
dbSNP: rs727502810
rs727502810
TUB ; RIC3
8 0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 0.700 0
dbSNP: rs1564493599
rs1564493599
TRPM3 ; LOC101927086
3 1.000 9 70598463 missense variant C/T snv 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs397509418
rs397509418
TRAPPC11
1 4 183684059 splice region variant G/A snv 5.6E-05 4.2E-05 0.700 0
dbSNP: rs1331463984
rs1331463984
TRAF7
33 0.701 0.240 16 2176350 missense variant G/A snv 0.700 0
dbSNP: rs1163944538
rs1163944538
TMEM94
73 0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 0.700 0
dbSNP: rs1352010373
rs1352010373
TMEM94
73 0.641 0.560 17 75489265 splice acceptor variant G/C snv 0.700 0
dbSNP: rs267607116
rs267607116
TMEM67
8 0.851 0.160 8 93808861 missense variant G/A;C snv 0.700 1.000 1 2009 2009
dbSNP: rs1554555063
rs1554555063
TMEM67
7 0.882 0.160 8 93791324 splice region variant G/A snv 0.700 0
dbSNP: rs778139192
rs778139192
TICRR ; KIF7
14 0.776 0.360 15 89629561 stop gained G/A;T snv 4.1E-06; 7.3E-05 0.700 0
dbSNP: rs188675529
rs188675529
THAP11 ; CENPT
11 0.827 0.240 16 67842794 missense variant C/G;T snv 1.6E-03 6.0E-04 0.700 0
dbSNP: rs1243762658
rs1243762658
TENM3
5 0.851 0.160 4 182754413 missense variant C/A;G snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs755000701
rs755000701
TENM3
5 0.851 0.160 4 182799938 missense variant C/T snv 9.2E-06 1.4E-05 0.700 0
dbSNP: rs587784469
rs587784469
TCF4
2 1.000 0.200 18 55261466 splice region variant C/T snv 0.700 0
dbSNP: rs1569146542
rs1569146542
TCF20
1 22 42211502 frameshift variant CT/- delins 0.700 0
dbSNP: rs1569146649
rs1569146649
TCF20
2 1.000 0.200 22 42211545 frameshift variant -/T delins 0.700 0
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