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: rs10842262
rs10842262
SOX5
5 0.851 0.040 12 24031610 intron variant G/C snv 0.43 0.720 0.500 2 2011 2015
dbSNP: rs12097821
rs12097821 		4 0.882 0.040 1 106793679 regulatory region variant G/A;T snv 0.720 0.500 2 2011 2015
dbSNP: rs2477686
rs2477686
PLCH2
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.720 1.000 2 2011 2015
dbSNP: rs10248566
rs10248566 		1 1.000 0.040 7 91638848 non coding transcript exon variant G/C snv 0.25 0.700 1.000 1 2011 2011
dbSNP: rs1039229
rs1039229
SOX5
1 1.000 0.040 12 24032586 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10910078
rs10910078
PLCH2
1 1.000 0.040 1 2459149 intron variant T/C snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs10978121
rs10978121
PTPRD
1 1.000 0.040 9 9945648 intron variant T/C snv 8.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs11135484
rs11135484
ERAP1 ; ERAP2
1 1.000 0.040 5 96886185 intron variant A/G snv 0.55 0.010 1.000 1 2016 2016
dbSNP: rs11204885
rs11204885
TDRKH
1 1.000 0.040 1 151775494 missense variant A/G;T snv 0.23 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11754464
rs11754464
MSH5 ; MSH5-SAPCD1
1 1.000 0.040 6 31755958 intron variant C/T snv 4.6E-03 0.010 1.000 1 2015 2015
dbSNP: rs11918142
rs11918142
IL12A-AS1
1 1.000 0.040 3 160189298 intron variant T/C snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs11937871
rs11937871 		1 1.000 0.040 4 103871299 upstream gene variant C/T snv 0.27 0.700 1.000 1 2011 2011
dbSNP: rs11987150
rs11987150
LOC102723729
1 1.000 0.040 8 41560644 intron variant G/A snv 0.20 0.700 1.000 1 2011 2011
dbSNP: rs12429186
rs12429186 		1 1.000 0.040 13 33718141 regulatory region variant T/C snv 2.7E-02 0.700 1.000 1 2011 2011
dbSNP: rs13206743
rs13206743
LINCMD1
1 1.000 0.040 6 52152310 upstream gene variant T/C snv 0.31 0.010 1.000 1 2014 2014
dbSNP: rs1328626
rs1328626
SOHLH2 ; CCDC169-SOHLH2
1 1.000 0.040 13 36204635 intron variant C/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1328641
rs1328641
SOHLH2 ; CCDC169-SOHLH2
1 1.000 0.040 13 36170892 intron variant C/T snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs138178131
rs138178131
ATP7A ; PGK1 ; PGAM4
1 1.000 0.040 X 77969564 missense variant C/A;G snv 5.5E-06; 3.2E-03 7.9E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs1406714
rs1406714
CHD2
1 1.000 0.040 15 92918141 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1447393
rs1447393
MIR510 ; LOC105373347
1 1.000 0.040 X 147272022 downstream gene variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs163065
rs163065
LINC02150
1 1.000 0.040 5 16434781 intron variant G/A;C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs16964657
rs16964657
MAPK6 ; LOC112268149
1 1.000 0.040 15 51982216 intron variant C/T snv 7.1E-02 0.700 1.000 1 2012 2012
dbSNP: rs17033369
rs17033369
LINC01829 ; LINC01828
1 1.000 0.040 2 67279592 intron variant T/C snv 6.6E-02 0.700 1.000 1 2012 2012
dbSNP: rs1707957
rs1707957
MOBP
1 1.000 0.040 3 39482000 intron variant C/A snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs1909351
rs1909351
SOX5
1 1.000 0.040 12 24029914 intron variant C/T snv 0.28 0.700 1.000 1 2011 2011