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: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.030 1.000 3 2002 2006
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: rs104893915
rs104893915
SLC26A2
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 6 1996 2010
dbSNP: rs104894094
rs104894094
CDKN2A
12 0.763 0.200 9 21971058 missense variant C/A;G;T snv 8.5E-06; 4.3E-06 0.700 1.000 8 2000 2011
dbSNP: rs104894635
rs104894635
SGSH
4 0.882 0.120 17 80213815 missense variant C/A;T snv 4.4E-06; 3.3E-04 0.700 1.000 8 2003 2018
dbSNP: rs104894639
rs104894639
SGSH
3 0.925 0.120 17 80210622 missense variant C/T snv 6.8E-05 2.8E-05 0.700 1.000 8 2003 2018
dbSNP: rs1057519389
rs1057519389
EBF3
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 8 2009 2017
dbSNP: rs1057519430
rs1057519430
DDX3X
5 0.925 X 41346946 missense variant C/T snv 0.700 1.000 16 1989 2017
dbSNP: rs1057521083
rs1057521083
SATB2
4 0.925 0.200 2 199348709 missense variant G/A snv 0.700 1.000 21 1989 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: rs1064795935
rs1064795935
COL4A1
3 1.000 13 110181389 missense variant C/T snv 0.700 1.000 18 1984 2015
dbSNP: rs1064796453
rs1064796453
CTNNB1
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs1064797245
rs1064797245
ATP1A3
12 0.776 0.280 19 41970540 missense variant G/A snv 0.700 1.000 27 1988 2017
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1131691608
rs1131691608
DDX3X
2 1.000 X 41346503 splice acceptor variant A/G snv 0.700 1.000 16 1989 2017
dbSNP: rs1131691712
rs1131691712
CACNA1A
1 19 13286952 frameshift variant -/A delins 4.2E-06 0.700 1.000 46 1988 2017
dbSNP: rs1135402761
rs1135402761
SYT1
11 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
dbSNP: rs113994048
rs113994048
EIF2B5 ; LOC105374249
2 1.000 0.040 3 184136734 missense variant A/T snv 4.4E-05 2.1E-05 0.700 1.000 5 1998 2014
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: rs1156904586
rs1156904586
ATP8A2
3 1.000 13 25577115 frameshift variant -/T delins 1.4E-05 0.700 1.000 5 2012 2017
dbSNP: rs1161032867
rs1161032867
FUS
1 16 31191070 frameshift variant G/-;GGGG delins 0.700 1.000 7 2009 2015
dbSNP: rs118161496
rs118161496
NUBPL
2 1.000 0.040 14 31850092 non coding transcript exon variant T/C snv 3.4E-03 3.4E-03 0.700 1.000 14 1999 2013
dbSNP: rs119476050
rs119476050
ATL1
2 1.000 0.080 14 50628154 missense variant C/T snv 4.0E-06 0.700 1.000 3 2007 2013
dbSNP: rs1213060424
rs1213060424
DLG3
2 X 70449787 stop gained C/A;T snv 0.700 1.000 6 2004 2017
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