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: rs387906315
rs387906315
GBA
8 0.790 0.160 1 155240660 frameshift variant -/C delins 5.2E-05 5.6E-05 0.010 1.000 1 2020 2020
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs201435717
rs201435717
PKIB ; SERINC1
1 1.000 0.040 6 122472555 intron variant -/T delins 9.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs200956582
rs200956582
TRIM34 ; TRIM5 ; TRIM6-TRIM34
1 1.000 0.040 11 5637380 intron variant A/- del 7.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs112422930
rs112422930
MUTYH
4 0.882 0.160 1 45332409 missense variant A/C snv 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs3813034
rs3813034
SLC6A4
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs4646
rs4646
CYP19A1 ; MIR4713HG
16 0.716 0.360 15 51210647 3 prime UTR variant A/C snv 0.67 0.70 0.010 1.000 1 2009 2009
dbSNP: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs421016
rs421016
GBA
30 0.683 0.440 1 155235252 missense variant A/C;G snv 8.0E-06; 1.3E-03 0.010 1.000 1 2020 2020
dbSNP: rs876660634
rs876660634
PTEN
10 0.807 0.200 10 87925551 missense variant A/C;G snv 0.700 0
dbSNP: rs28936379
rs28936379
PSEN2
10 0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750306
rs63750306
PSEN1
17 0.701 0.320 14 73173663 missense variant A/C;G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs1344706
rs1344706
ZNF804A
21 0.701 0.160 2 184913701 intron variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs184904296
rs184904296
LOC112268446
1 1.000 0.040 3 112431166 intergenic variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs3764435
rs3764435
ALDH1A1
5 0.827 0.120 9 72901960 intron variant A/C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs80265967
rs80265967
SOD1
16 0.732 0.200 21 31667290 missense variant A/C;T snv 1.4E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.909 11 2000 2019
dbSNP: rs17125721
rs17125721
PSEN1
14 0.763 0.120 14 73206470 missense variant A/G snv 1.5E-02 1.5E-02 0.020 1.000 2 2002 2013
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.020 1.000 2 2007 2017
dbSNP: rs10521467
rs10521467
PCSK5
2 0.925 0.080 9 76036575 intron variant A/G snv 0.12 0.010 1.000 1 2019 2019
dbSNP: rs11030108
rs11030108
BDNF ; BDNF-AS
3 1.000 0.040 11 27673917 intron variant A/G snv 0.72 0.010 1.000 1 2013 2013
dbSNP: rs1108580
rs1108580
DBH
9 0.790 0.240 9 133639992 splice region variant A/G snv 0.45 0.54 0.010 1.000 1 2018 2018
dbSNP: rs1157659
rs1157659 		2 1.000 0.040 11 27736075 intron variant A/G snv 0.37 0.010 1.000 1 2013 2013
dbSNP: rs116065238
rs116065238 		1 1.000 0.040 1 171482283 upstream gene variant A/G snv 4.3E-03 0.700 1.000 1 2015 2015
dbSNP: rs12435940
rs12435940 		1 1.000 0.040 14 25552779 intergenic variant A/G snv 0.97 0.700 1.000 1 2015 2015