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: rs2341557
rs2341557
PLXNA4
1 7 132134524 intron variant T/C snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs2395022
rs2395022
KPNA7
1 7 99152756 intergenic variant A/C snv 0.93 0.700 1.000 1 2015 2015
dbSNP: rs2412970
rs2412970
HORMAD2
1 22 30090837 intron variant A/G snv 0.55 0.800 1.000 1 2012 2012
dbSNP: rs2427870
rs2427870 		1 X 136581905 upstream gene variant C/T snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs2472649
rs2472649 		1 4 73991991 upstream gene variant A/G;T snv 0.800 1.000 1 2012 2012
dbSNP: rs2593855
rs2593855
FOXP1
1 3 71126344 intron variant C/T snv 0.30 0.700 1.000 1 2017 2017
dbSNP: rs273506
rs273506
MAST3
1 19 18110837 intron variant C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2790216
rs2790216
IPMK
1 10 58238165 intron variant G/A snv 0.34 0.800 1.000 1 2012 2012
dbSNP: rs2839073
rs2839073 		1 21 45953845 regulatory region variant T/C snv 0.16 0.700 1.000 1 2018 2018
dbSNP: rs2847278
rs2847278 		1 18 12778716 upstream gene variant C/T snv 0.83 0.700 1.000 1 2015 2015
dbSNP: rs304496
rs304496
LIPA
1 10 89387005 intron variant A/G snv 0.96 0.010 < 0.001 1 2017 2017
dbSNP: rs34688635
rs34688635
NOX1
1 X 100850206 missense variant C/T snv 1.9E-02 2.0E-02 0.010 < 0.001 1 2018 2018
dbSNP: rs34694289
rs34694289
FCER2
1 19 7689215 missense variant G/A;C snv 2.4E-03; 1.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs34856868
rs34856868
BTBD8
1 1 92088726 missense variant G/A snv 2.0E-02 2.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs35730213
rs35730213
INAVA
1 1 200905101 intron variant G/C snv 0.22 0.700 1.000 1 2015 2015
dbSNP: rs36221701
rs36221701
SMAD3 ; LOC102723493
1 15 67064151 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs3766920
rs3766920
SHC1 ; PYGO2 ; LOC101928120
1 1 154962487 3 prime UTR variant G/A snv 1.2E-03 0.710 1.000 1 2016 2016
dbSNP: rs3798544
rs3798544
SPDEF
1 6 34552490 intron variant G/A snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs4317455
rs4317455
PSMG4
1 6 3263257 intron variant C/T snv 0.68 0.700 1.000 1 2018 2018
dbSNP: rs444210
rs444210
LOC105378120
1 6 166976754 intron variant A/G snv 0.44 0.700 1.000 1 2015 2015
dbSNP: rs4821558
rs4821558
CSF2RB
1 22 36912743 upstream gene variant T/C snv 0.20 0.700 1.000 1 2016 2016
dbSNP: rs4836519
rs4836519 		1 5 130681594 intron variant T/A;C snv 0.800 1.000 1 2012 2012
dbSNP: rs4899554
rs4899554 		1 14 75234518 downstream gene variant C/T snv 0.14 0.800 1.000 1 2012 2012
dbSNP: rs490608
rs490608
DAP3
1 1 155713079 intron variant C/T snv 0.48 0.700 1.000 1 2015 2015
dbSNP: rs4911259
rs4911259
DNMT3B
1 20 32788476 intron variant T/G snv 0.42 0.800 1.000 1 2012 2012