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: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs137852695
rs137852695
PPT1
4 0.925 0.120 1 40091398 missense variant T/A snv 7.0E-04 6.0E-04 0.700 0
dbSNP: rs143657539
rs143657539
PPT1
2 1 40092054 missense variant C/T snv 4.0E-06 1.4E-05 0.700 0
dbSNP: rs144900171
rs144900171
SYT1
5 0.925 12 79448968 missense variant C/G;T snv 1.3E-04 6.2E-04 0.700 0
dbSNP: rs1554504663
rs1554504663
RHOBTB2
11 0.851 0.080 8 23007627 missense variant G/A snv 0.700 0
dbSNP: rs1555119899
rs1555119899
ATM ; C11orf65
7 0.925 0.240 11 108326149 missense variant G/C snv 0.700 0
dbSNP: rs1565922388
rs1565922388
SYT1
5 0.925 12 79353599 missense variant T/A snv 0.700 0
dbSNP: rs1565922395
rs1565922395
SYT1
5 0.925 12 79353602 missense variant A/G snv 0.700 0
dbSNP: rs1565962725
rs1565962725
SYT1
5 0.925 12 79448953 missense variant C/A snv 0.700 0
dbSNP: rs369691608
rs369691608
BCS1L ; ZNF142
5 1.000 0.160 2 218661255 missense variant C/T snv 8.0E-06 0.700 0
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.700 0
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2002 2006
dbSNP: rs1060501198
rs1060501198
TP53
3 0.925 0.040 17 7674900 missense variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs876658902
rs876658902
TP53
3 0.925 0.040 17 7676182 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs5030869
rs5030869
G6PD
4 0.882 0.120 X 154532990 missense variant C/A;T snv 5.5E-06; 1.9E-04 6.6E-05 0.700 1.000 5 1981 2008
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
19 0.695 0.400 2 138002079 missense variant C/T snv 1.0E-01 8.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs1553597538
rs1553597538
BCS1L
1 2 218662571 frameshift variant CT/- delins 0.700 1.000 5 2001 2009
dbSNP: rs377025174
rs377025174
BCS1L ; ZNF142
1 2 218661192 missense variant C/A;T snv 4.0E-06; 6.8E-05 0.700 1.000 5 2001 2009
dbSNP: rs121434376
rs121434376
SETX
2 1.000 0.080 9 132327511 stop gained G/A snv 4.0E-06 7.0E-06 0.700 1.000 4 2004 2009
dbSNP: rs1554820931
rs1554820931
SETX
1 9 132328198 frameshift variant -/T delins 0.700 1.000 4 2004 2009
dbSNP: rs1554822175
rs1554822175
SETX
1 9 132331387 frameshift variant A/- delins 0.700 1.000 4 2004 2009
dbSNP: rs1555511101
rs1555511101
GAN
1 16 81354554 stop gained C/G snv 0.700 1.000 4 1990 2009
dbSNP: rs587776537
rs587776537
SETX
2 1.000 0.080 9 132346304 inframe deletion AGA/- delins 0.700 1.000 4 2004 2009
dbSNP: rs759581558
rs759581558
GAN
2 1.000 0.080 16 81356957 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 4 1990 2009