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: rs4624820
rs4624820 		5 0.851 0.240 5 142302223 regulatory region variant G/A snv 0.55 0.700 1.000 4 2009 2013
dbSNP: rs4635969
rs4635969 		7 0.827 0.160 5 1308437 downstream gene variant G/A;T snv 0.700 1.000 2 2010 2013
dbSNP: rs10510452
rs10510452 		2 1.000 0.120 3 16583541 downstream gene variant A/G snv 0.22 0.700 1.000 1 2013 2013
dbSNP: rs1508595
rs1508595 		5 0.851 0.240 12 88592239 intron variant G/A;T snv 0.700 1.000 1 2009 2009
dbSNP: rs4699052
rs4699052 		3 0.925 0.200 4 103216633 intergenic variant C/T snv 0.44 0.700 1.000 1 2009 2009
dbSNP: rs7532231
rs7532231 		2 1.000 0.120 1 104193445 intron variant A/G;T snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs8046148
rs8046148 		2 1.000 0.120 16 50109033 intron variant A/G;T snv 0.700 1.000 1 2013 2013
dbSNP: rs2900333
rs2900333
ATF7IP
6 0.882 0.200 12 14500933 3 prime UTR variant C/A;G;T snv 0.700 1.000 2 2010 2013
dbSNP: rs210138
rs210138
BAK1 ; GGNBP1
5 0.851 0.240 6 33574761 intron variant A/G snv 0.19 0.710 1.000 4 2009 2017
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs2720460
rs2720460
CENPE
2 1.000 0.120 4 103133529 intron variant A/G snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs755383
rs755383
DMRT1
7 0.807 0.120 9 863635 intron variant C/T snv 0.54 0.700 1.000 4 2010 2013
dbSNP: rs7040024
rs7040024
DMRT1
4 0.925 0.120 9 845516 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs17021463
rs17021463
HPGDS
2 1.000 0.120 4 94303661 intron variant T/G snv 0.57 0.700 1.000 1 2013 2013
dbSNP: rs121913506
rs121913506
KIT
24 0.677 0.320 4 54733154 missense variant G/A;C;T snv 0.700 0
dbSNP: rs995030
rs995030
KITLG
9 0.776 0.320 12 88496894 3 prime UTR variant A/G snv 0.67 0.700 1.000 3 2009 2013
dbSNP: rs3782181
rs3782181
KITLG
4 0.882 0.120 12 88559784 intron variant C/A snv 0.65 0.700 1.000 1 2010 2010
dbSNP: rs4474514
rs4474514
KITLG
6 0.827 0.240 12 88560182 intron variant G/A snv 0.65 0.700 1.000 1 2009 2009
dbSNP: rs12699477
rs12699477
MAD1L1
2 1.000 0.120 7 1929317 intron variant T/C snv 0.28 0.700 1.000 1 2013 2013
dbSNP: rs2839186
rs2839186
MCM3AP
2 1.000 0.120 21 46270154 intron variant C/T snv 0.42 0.700 1.000 1 2013 2013
dbSNP: rs6671895
rs6671895
MIR3659 ; MIR3659HG
2 1.000 0.120 1 38089354 intron variant C/A;T snv 4.9E-02 0.700 1.000 1 2019 2019
dbSNP: rs76308115
rs76308115
PDE11A
5 0.851 0.080 2 178014454 stop gained G/A snv 2.9E-03 2.9E-03 0.010 1.000 1 2011 2011
dbSNP: rs79903863
rs79903863
PDE11A
1 2 177669537 stop gained C/A;G;T snv 2.2E-04; 1.6E-05 0.010 1.000 1 2011 2011
dbSNP: rs3805663
rs3805663
PITX1
2 1.000 0.120 5 135030510 intron variant A/G snv 0.49 0.700 1.000 1 2013 2013