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: rs149119842
rs149119842
CHCHD2
3 0.882 0.120 7 56104288 missense variant T/C snv 2.4E-05 2.8E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs1544210
rs1544210 		3 0.882 0.240 10 92728044 regulatory region variant G/A snv 0.39 0.010 < 0.001 1 2015 2015
dbSNP: rs17746510
rs17746510
RAPGEF4
5 0.882 0.080 2 173019562 intron variant T/C;G snv 0.010 < 0.001 1 2016 2016
dbSNP: rs1800977
rs1800977
ABCA1 ; LOC105376196
5 0.851 0.240 9 104928169 intron variant G/A;C snv 0.010 < 0.001 1 2016 2016
dbSNP: rs200396597
rs200396597
APP
2 1.000 0.080 21 25881743 missense variant C/T snv 7.0E-06 0.010 < 0.001 1 2018 2018
dbSNP: rs2066713
rs2066713
SLC6A4
9 0.807 0.200 17 30224647 intron variant G/A snv 0.34 0.010 < 0.001 1 2020 2020
dbSNP: rs2066718
rs2066718
ABCA1
7 0.882 0.120 9 104826974 missense variant C/G;T snv 4.3E-04; 5.4E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs2228479
rs2228479
MC1R
11 0.763 0.280 16 89919532 missense variant G/A;C snv 7.8E-02; 4.0E-06 0.010 < 0.001 1 2017 2017
dbSNP: rs223330
rs223330
CISD2
4 0.851 0.160 4 102872502 intron variant T/A;C snv 0.010 < 0.001 1 2015 2015
dbSNP: rs2234886
rs2234886
ABCA1
1 1.000 0.080 9 104800523 missense variant T/C snv 0.010 < 0.001 1 2003 2003
dbSNP: rs2240158
rs2240158
GRIN3B
2 0.925 0.120 19 1005231 missense variant C/T snv 0.36 0.41 0.010 < 0.001 1 2009 2009
dbSNP: rs2250889
rs2250889
MMP9 ; SLC12A5-AS1
24 0.667 0.520 20 46013767 missense variant G/C;T snv 0.88; 1.6E-05 0.010 < 0.001 1 2005 2005
dbSNP: rs2274756
rs2274756
MMP9 ; SLC12A5-AS1
4 0.851 0.200 20 46014472 missense variant G/A;C snv 0.010 < 0.001 1 2005 2005
dbSNP: rs2306604
rs2306604
TFAM
5 0.827 0.080 10 58388932 intron variant A/C;G;T snv 0.010 < 0.001 1 2013 2013
dbSNP: rs2664538
rs2664538
MMP9
6 0.827 0.200 20 46011586 missense variant A/G snv 0.010 < 0.001 1 2005 2005
dbSNP: rs356165
rs356165
SNCA
3 0.882 0.080 4 89725735 3 prime UTR variant G/A snv 0.54 0.010 < 0.001 1 2012 2012
dbSNP: rs35870237
rs35870237
LRRK2
9 0.763 0.120 12 40340404 missense variant T/C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs367398
rs367398
NOTCH4
5 0.827 0.160 6 32223953 5 prime UTR variant G/A snv 0.34 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs371753097
rs371753097
PIPOX ; SEZ6 ; LOC105371716
2 1.000 0.080 17 28959400 missense variant C/T snv 2.4E-05 2.1E-05 0.010 < 0.001 1 2018 2018
dbSNP: rs3740058
rs3740058
DNMBP
1 1.000 0.080 10 99896225 intron variant G/A snv 0.34 0.31 0.010 < 0.001 1 2015 2015
dbSNP: rs3765728
rs3765728
TP73
1 1.000 0.080 1 3690286 intron variant G/A;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs4251417
rs4251417
SLC6A4
7 0.827 0.200 17 30224840 intron variant C/T snv 6.8E-02 0.010 < 0.001 1 2020 2020
dbSNP: rs4548513
rs4548513
CTNNA3
2 0.925 0.080 10 66280567 missense variant C/G;T snv 0.40 0.010 < 0.001 1 2007 2007
dbSNP: rs4746
rs4746
GLO1
21 0.708 0.400 6 38682852 missense variant T/A;G snv 0.36 0.010 < 0.001 1 2004 2004
dbSNP: rs4807399
rs4807399
GRIN3B
1 1.000 0.080 19 1004711 missense variant C/T snv 0.44 0.46 0.010 < 0.001 1 2009 2009