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: rs7765004
rs7765004 		2 0.925 0.120 6 113750518 regulatory region variant A/C snv 0.32 0.700 1.000 1 2015 2015
dbSNP: rs777500092
rs777500092
DNMT3A
2 1.000 0.120 2 25246231 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs79480871
rs79480871 		2 0.925 0.160 2 24471603 intergenic variant C/T snv 9.3E-02 0.700 1.000 1 2014 2014
dbSNP: rs931920092
rs931920092
EFS
2 0.925 0.120 14 23357350 missense variant G/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs111724149
rs111724149
PRDM11
2 0.925 0.120 11 45204720 missense variant A/G snv 1.8E-03 1.8E-03 0.700 0
dbSNP: rs35090414
rs35090414
PRDM11
2 0.925 0.120 11 45224227 missense variant G/A;T snv 1.5E-04; 8.2E-02 0.700 0
dbSNP: rs1178732315
rs1178732315
GBA
3 0.882 0.240 1 155236381 missense variant A/G snv 1.4E-05 0.020 1.000 2 2015 2017
dbSNP: rs1323292
rs1323292
LOC105371664
3 0.882 0.160 1 192571891 intron variant G/A snv 0.86 0.700 1.000 1 2019 2019
dbSNP: rs143002189
rs143002189
TNFAIP3
3 1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs1444766
rs1444766
KALRN
3 0.882 0.160 3 124206424 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs41289586
rs41289586
ANO10
3 0.882 0.160 3 43577066 missense variant C/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs587781386
rs587781386
TP53
3 0.882 0.120 17 7674889 missense variant A/C;G snv 3.2E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs8094402
rs8094402
MBP
3 0.882 0.120 18 76995493 intron variant A/G snv 0.25 0.010 1.000 1 2013 2013
dbSNP: rs9831894
rs9831894
CD86
3 0.882 0.120 3 122081640 intron variant A/C snv 0.31 0.010 1.000 1 2020 2020
dbSNP: rs116446171
rs116446171 		4 0.851 0.160 6 484453 downstream gene variant C/G snv 2.3E-02 0.710 1.000 2 2014 2015
dbSNP: rs11045879
rs11045879
SLCO1B1
4 1.000 0.120 12 21229685 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1883112
rs1883112
NCF4 ; NCF4-AS1
4 0.851 0.200 22 36860804 intron variant G/A snv 0.39 0.010 1.000 1 2017 2017
dbSNP: rs2425752
rs2425752
NCOA5
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs751837
rs751837
CDC42BPB
4 0.882 0.120 14 103018488 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs806321
rs806321
DLEU1
4 0.851 0.160 13 50267187 intron variant C/T snv 0.47 0.700 1.000 1 2019 2019
dbSNP: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1164376164
rs1164376164
ABCB1
6 0.851 0.200 7 87601024 5 prime UTR variant A/G snv 0.010 1.000 1 2013 2013
dbSNP: rs1800683
rs1800683
LTA ; LOC100287329
6 0.807 0.240 6 31572294 5 prime UTR variant G/A;C snv 0.39 0.010 1.000 1 2013 2013