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: rs10036789
rs10036789 		3 1.000 0.080 5 72400091 regulatory region variant C/A;G snv 0.700 1.000 3 2018 2018
dbSNP: rs327716
rs327716 		1 7 81209661 regulatory region variant A/G;T snv 0.700 1.000 3 2018 2018
dbSNP: rs3791979
rs3791979
TNS1
3 1.000 0.040 2 217802649 3 prime UTR variant T/A;C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs6065171
rs6065171 		1 20 39910126 regulatory region variant T/C;G snv 0.700 1.000 3 2018 2018
dbSNP: rs9608740
rs9608740
EMID1 ; LOC105372985
3 22 29224336 intron variant A/C;G;T snv 0.700 1.000 3 2018 2018
dbSNP: rs10230941
rs10230941 		1 7 117996057 downstream gene variant C/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs10767734
rs10767734
LINC02758
1 11 28620834 regulatory region variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs12444539
rs12444539
LOC105376775
1 16 77504106 intergenic variant A/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs1755056
rs1755056
RUNX2 ; RUNX2-AS1
1 6 45554923 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs17752199
rs17752199 		3 0.925 0.040 6 51542050 upstream gene variant A/C;G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2472494
rs2472494
LOC105376196
2 1.000 0.040 9 104933258 downstream gene variant T/A;C snv 0.700 1.000 2 2018 2019
dbSNP: rs61755579
rs61755579
SOS2
1 14 50188589 missense variant C/A;T snv 3.7E-05; 1.8E-02 0.700 1.000 2 2018 2018
dbSNP: rs72755233
rs72755233
ADAMTS17
5 1.000 0.080 15 100152748 missense variant G/A;T snv 7.1E-02; 3.2E-05 0.700 1.000 2 2017 2018
dbSNP: rs9419741
rs9419741 		1 10 92670768 upstream gene variant A/G;T snv 0.700 1.000 2 2018 2018
dbSNP: rs1001989
rs1001989 		1 8 106844987 intergenic variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10140566
rs10140566
DPF3
1 14 72665482 intron variant T/A;G snv 0.700 1.000 1 2018 2018
dbSNP: rs10447301
rs10447301
ADAMTS2
1 5 179122253 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs10563220
rs10563220 		1 7 65857401 downstream gene variant TATATATATA/-;TA;TATA;TATATA;TATATATA;TATATATATATA;TATATATATATATA;TATATATATATATATA;TATATATATATATATATA;TATATATATATATATATATA;TATATATATATATATATATATA;TATATATATATATATATATATATA delins 0.700 1.000 1 2019 2019
dbSNP: rs10625795
rs10625795 		1 10 28669676 downstream gene variant AA/-;A;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA delins 0.700 1.000 1 2018 2018
dbSNP: rs10760442
rs10760442
LMX1B
2 1.000 0.040 9 126621621 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10860882
rs10860882
LOC105369944
1 12 102577841 intergenic variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs11111315
rs11111315
LOC105369944
1 12 102590136 intergenic variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11157810
rs11157810
OXA1L
1 14 22772295 3 prime UTR variant C/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs111870938
rs111870938
LMO7
1 13 75680572 intron variant T/-;TT;TTT delins 0.700 1.000 1 2018 2018
dbSNP: rs11217874
rs11217874
ARHGEF12
1 11 120454839 intron variant G/A;T snv 0.700 1.000 1 2015 2015