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: rs11037975
rs11037975 		7 0.807 0.080 11 44389312 intergenic variant C/A;G snv 0.700 1.000 2 2016 2017
dbSNP: rs11593840
rs11593840
LRMDA
7 0.807 0.080 10 76436854 intron variant A/G snv 0.40 0.700 1.000 2 2016 2017
dbSNP: rs11684254
rs11684254 		7 0.807 0.080 2 238787252 downstream gene variant C/G snv 0.44 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592
IRF4
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.700 1.000 2 2016 2017
dbSNP: rs13405699
rs13405699 		7 0.807 0.080 2 173740905 intergenic variant C/A;G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs2180439
rs2180439 		7 0.807 0.080 20 21872462 intergenic variant C/T snv 0.58 0.700 1.000 2 2008 2011
dbSNP: rs2497938
rs2497938 		7 0.807 0.080 X 67343176 intergenic variant T/C snv 0.37 0.700 1.000 2 2011 2012
dbSNP: rs68088846
rs68088846
RUNX1 ; LOC102724584
7 0.807 0.080 21 34835870 intron variant G/A snv 0.27 0.700 1.000 2 2016 2017
dbSNP: rs7642536
rs7642536
MRPS22
7 0.807 0.080 3 139313491 intron variant T/C snv 0.12 0.700 1.000 2 2016 2017
dbSNP: rs76972608
rs76972608 		7 0.807 0.080 12 130078818 intergenic variant A/T snv 0.13 0.700 1.000 2 2016 2017
dbSNP: rs10502861
rs10502861
SLC14A2
7 0.807 0.080 18 45220183 intron variant C/T snv 0.32 0.700 1.000 1 2012 2012
dbSNP: rs10888690
rs10888690
FAF1
7 0.807 0.080 1 50494849 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs10930758
rs10930758 		7 0.807 0.080 2 176897100 intergenic variant A/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs11087368
rs11087368
LINC01432
6 0.827 0.080 20 22057342 intron variant T/-;TT;TTT;TTTT delins 0.700 1.000 1 2017 2017
dbSNP: rs111668293
rs111668293
TBX15
7 0.807 0.080 1 118896200 intron variant G/- del 0.12 0.700 1.000 1 2017 2017
dbSNP: rs111763724
rs111763724 		6 0.827 0.080 X 57975900 intergenic variant A/G snv 7.8E-02 0.700 1.000 1 2016 2016
dbSNP: rs11249243
rs11249243 		6 0.827 0.080 1 25021086 upstream gene variant C/T snv 8.9E-02 0.700 1.000 1 2017 2017
dbSNP: rs115182912
rs115182912 		7 0.807 0.080 3 126274431 intron variant G/A snv 1.5E-02 0.700 1.000 1 2017 2017
dbSNP: rs11578119
rs11578119
GORAB ; GORAB-AS1
6 0.827 0.080 1 170532315 intron variant C/A;T snv 8.0E-06; 0.27 0.700 1.000 1 2017 2017
dbSNP: rs1160312
rs1160312
LINC01432
7 0.807 0.080 20 22069865 intron variant A/G snv 0.55 0.700 1.000 1 2008 2008
dbSNP: rs11694173
rs11694173
THADA
7 0.827 0.080 2 43363760 intron variant G/A snv 0.14 0.700 1.000 1 2016 2016
dbSNP: rs12083887
rs12083887 		7 0.807 0.080 1 118339066 regulatory region variant A/G snv 0.62 0.700 1.000 1 2016 2016
dbSNP: rs12214131
rs12214131 		7 0.807 0.080 6 105760046 intron variant G/A snv 0.29 0.700 1.000 1 2017 2017
dbSNP: rs12373124
rs12373124
SPPL2C ; MAPT-AS1
9 0.790 0.120 17 45846853 synonymous variant T/C snv 0.15 0.14 0.700 1.000 1 2012 2012
dbSNP: rs12565727
rs12565727
C1orf127
7 0.807 0.080 1 10973025 intron variant A/G snv 0.31 0.700 1.000 1 2012 2012