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: rs3104767
rs3104767
CASC16
2 0.925 0.080 16 52590826 intron variant G/T snv 0.49 0.840 1.000 4 2011 2020
dbSNP: rs3923809
rs3923809
BTBD9
1 1.000 0.080 6 38473194 intron variant A/G snv 0.32 0.820 1.000 4 2007 2017
dbSNP: rs1026732
rs1026732
MAP2K5
1 1.000 0.080 15 67802747 intron variant G/A snv 0.38 0.720 1.000 3 2007 2018
dbSNP: rs12593813
rs12593813
MAP2K5
2 1.000 0.080 15 67744514 intron variant A/G snv 0.53 0.810 1.000 3 2007 2018
dbSNP: rs1975197
rs1975197
PTPRD
1 1.000 0.080 9 8846955 intron variant G/A snv 0.16 0.810 1.000 3 2008 2011
dbSNP: rs4626664
rs4626664
PTPRD
1 1.000 0.080 9 9261737 intron variant G/A snv 0.20 0.820 1.000 3 2008 2014
dbSNP: rs11635424
rs11635424
MAP2K5
1 1.000 0.080 15 67745240 intron variant A/G snv 0.53 0.710 1.000 2 2007 2018
dbSNP: rs3784709
rs3784709
MAP2K5
1 1.000 0.080 15 67779937 intron variant C/T snv 0.36 0.710 1.000 2 2007 2018
dbSNP: rs4489954
rs4489954
MAP2K5
1 1.000 0.080 15 67779737 intron variant T/A;G snv 0.710 1.000 2 2007 2018
dbSNP: rs6494696
rs6494696 		1 1.000 0.080 15 67810868 downstream gene variant G/A;C snv 0.710 1.000 2 2007 2017
dbSNP: rs10208712
rs10208712 		1 1.000 0.080 2 3986856 regulatory region variant A/G snv 0.26 0.700 1.000 1 2017 2017
dbSNP: rs10952927
rs10952927
LOC107986816
1 1.000 0.080 7 88729746 intron variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111652004
rs111652004 		1 1.000 0.080 15 47068169 intergenic variant G/T snv 8.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs113851554
rs113851554
MEIS1
5 0.882 0.080 2 66523432 intron variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs12046503
rs12046503 		1 1.000 0.080 1 106652717 intergenic variant T/C snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs12450895
rs12450895
LINC02086
1 1.000 0.080 17 48695414 intron variant G/A snv 0.27 0.700 1.000 1 2017 2017
dbSNP: rs12469063
rs12469063
MEIS1
2 0.925 0.080 2 66537176 intron variant A/G snv 0.18 0.700 1.000 1 2007 2007
dbSNP: rs12962305
rs12962305
LINC01478
1 1.000 0.080 18 44290278 intron variant C/T snv 0.21 0.700 1.000 1 2017 2017
dbSNP: rs138915427
rs138915427
PTPRD
1 1.000 0.080 9 8341723 missense variant C/A;G;T snv 4.0E-06; 2.0E-05; 2.4E-05 0.010 1.000 1 2011 2011
dbSNP: rs17636328
rs17636328
LINC02520
1 1.000 0.080 6 37522755 intron variant A/G snv 0.14 0.700 1.000 1 2017 2017
dbSNP: rs1800652
rs1800652
FXN
1 1.000 0.080 9 69046200 intron variant G/A snv 0.24 0.010 < 0.001 1 2013 2013
dbSNP: rs1820989
rs1820989 		1 1.000 0.080 2 67842758 intergenic variant A/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs1836229
rs1836229
PTPRD
1 1.000 0.080 9 8820573 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1848460
rs1848460 		1 1.000 0.080 3 3406460 intron variant A/T snv 0.33 0.700 1.000 1 2017 2017
dbSNP: rs1918752
rs1918752
UTRN
1 1.000 0.080 6 144587941 intron variant A/T snv 0.22 0.010 1.000 1 2017 2017