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: rs1553417206
rs1553417206
EXOC6B
2 1.000 2 72465341 splice acceptor variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1554121872
rs1554121872
CAMK2A
7 0.882 0.040 5 150250270 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs1554389088
rs1554389088
CAMK2B
27 0.807 0.160 7 44243526 missense variant G/A snv 0.700 1.000 1 2017 2017
dbSNP: rs1554402092
rs1554402092
CAMK2B
8 1.000 7 44254555 missense variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
21 0.732 0.160 4 89835580 missense variant C/G snv 0.010 1.000 1 2017 2017
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: 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: rs34778348
rs34778348
LRRK2 ; LOC105369736
15 0.742 0.120 12 40363526 missense variant G/A snv 1.7E-03 5.8E-04 0.010 1.000 1 2016 2016
dbSNP: rs876658902
rs876658902
TP53
3 0.925 0.040 17 7676182 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs1456336365
rs1456336365
PDE6A
1 5 149898502 frameshift variant A/- delins 7.0E-06 0.700 1.000 2 2015 2015
dbSNP: rs1553252938
rs1553252938
EMC1 ; EMC1-AS1
2 1 19232655 missense variant G/T snv 0.700 1.000 2 2013 2016
dbSNP: rs752283089
rs752283089
ZFYVE26
1 14 67783217 stop gained G/T snv 4.0E-06 0.700 1.000 2 2013 2015
dbSNP: rs869312914
rs869312914
ZFYVE26
2 1.000 0.120 14 67752520 stop gained G/A snv 0.700 1.000 2 2013 2015