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: rs61748411
rs61748411
MECP2
3 0.925 0.120 X 154031356 missense variant T/C snv 0.010 1.000 1 2011 2011
dbSNP: rs6277
rs6277
DRD2
36 0.689 0.480 11 113412737 synonymous variant G/A snv 0.41 0.38 0.010 1.000 1 2007 2007
dbSNP: rs63750577
rs63750577
PSEN1
8 0.827 0.120 14 73186881 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs63750852
rs63750852
PSEN1
8 0.790 0.120 14 73170998 missense variant G/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs7127507
rs7127507
BDNF ; BDNF-AS
6 0.827 0.080 11 27693337 intron variant T/C snv 0.34 0.010 1.000 1 2018 2018
dbSNP: rs713041
rs713041
GPX4
16 0.776 0.400 19 1106616 stop gained T/A;C snv 4.2E-06; 0.58 0.010 1.000 1 2018 2018
dbSNP: rs74315408
rs74315408
PRNP
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs744373
rs744373 		8 0.851 0.160 2 127137039 downstream gene variant A/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs763868966
rs763868966
GFAP
4 1.000 0.080 17 44911429 stop gained C/A;G;T snv 1.2E-05; 4.0E-05 0.010 1.000 1 2015 2015
dbSNP: rs767543900
rs767543900
MAPT
10 0.790 0.120 17 45971879 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs775129479
rs775129479
IGFALS ; SPSB3
6 0.851 0.120 16 1791387 missense variant G/A;C;T snv 1.6E-05; 8.1E-06; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs781049584
rs781049584
APP
18 0.724 0.280 21 26021917 missense variant T/G snv 8.2E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs781587642
rs781587642
TUBA4A ; STK16
6 0.851 0.120 2 219250557 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs8074995
rs8074995
PRKCA
5 0.925 0.040 17 66796013 intron variant G/A snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.020 1.000 2 2013 2019
dbSNP: rs281865071
rs281865071
CHRNB2
5 0.882 0.080 1 154571759 missense variant C/G;T snv 0.020 1.000 2 2005 2008
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.020 1.000 2 2007 2013
dbSNP: rs63750264
rs63750264
APP
17 0.716 0.360 21 25891784 missense variant C/A;G;T snv 0.020 1.000 2 2000 2004
dbSNP: rs63750424
rs63750424
MAPT
30 0.677 0.240 17 46024061 missense variant C/T snv 1.6E-05 0.020 1.000 2 2002 2018
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 1.000 3 2007 2016
dbSNP: rs63751273
rs63751273
MAPT
42 0.645 0.280 17 46010389 missense variant C/T snv 0.030 1.000 3 2012 2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 1.000 3 2007 2016
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018