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: rs63750687
rs63750687
PSEN1
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs267606826
rs267606826
FOXG1
38 0.708 0.520 14 28767903 stop gained C/A;G;T snv 0.700 0
dbSNP: rs80356537
rs80356537
ATP1A3
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.700 0
dbSNP: rs775863165
rs775863165
HPCA
3 1.000 0.080 1 32889110 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs137852968
rs137852968
PANK2 ; MIR103A2
3 0.925 0.080 20 3916955 stop gained C/A;T snv 4.0E-06; 1.2E-05; 3.6E-05 0.700 0
dbSNP: rs267606670
rs267606670
ATP1A3
19 0.790 0.320 19 41968837 missense variant C/A;T snv 0.700 0
dbSNP: rs104894442
rs104894442
GCH1
3 1.000 0.040 14 54844023 missense variant C/G snv 4.0E-06 0.010 1.000 1 1999 1999
dbSNP: rs1135401746
rs1135401746
GNB1
7 0.827 0.400 1 1806512 missense variant C/G snv 0.700 0
dbSNP: rs1801968
rs1801968
TOR1A
7 0.827 0.040 9 129818622 missense variant C/G;T snv 0.13; 4.0E-06 0.020 0.500 2 2013 2017
dbSNP: rs113994063
rs113994063
EIF2B5
5 0.882 0.160 3 184140517 missense variant C/G;T snv 1.6E-05 2.8E-05 0.700 0
dbSNP: rs374052333
rs374052333
UBA5 ; NPHP3-ACAD11
27 0.763 0.320 3 132671032 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs80338892
rs80338892
TH
3 1.000 0.040 11 2167905 missense variant C/T snv 1.1E-04 1.4E-04 0.700 1.000 7 1998 2015
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
272 0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15 0.030 0.667 3 2009 2015
dbSNP: rs727502811
rs727502811
TOR1A
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.030 1.000 3 2008 2014
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
237 0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05 0.030 0.667 3 2009 2015
dbSNP: rs1372180906
rs1372180906
TH ; MIR4686
1 11 2171856 5 prime UTR variant C/T snv 7.0E-06 0.700 1.000 2 2007 2011
dbSNP: rs104893877
rs104893877
SNCA
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1057519279
rs1057519279
KMT2B
3 1.000 19 35720980 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1057519281
rs1057519281
KMT2B
3 1.000 19 35721775 stop gained C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1269252748
rs1269252748
VLDLR ; VLDLR-AS1
4 9 2641436 missense variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs574658589
rs574658589
HPCA
2 1 32888928 synonymous variant C/T snv 1.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs796065306
rs796065306
ADCY5
4 1.000 0.080 3 123319754 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1085307993
rs1085307993
GABRB2
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs1131692231
rs1131692231
CYFIP2
13 0.827 0.280 5 157294834 missense variant C/T snv 0.700 0
dbSNP: rs1555582065
rs1555582065
UBTF ; LOC101926967
13 0.827 0.160 17 44212851 missense variant C/T snv 0.700 0