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: rs12696304
rs12696304 		10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 2 2015 2018
dbSNP: rs498136
rs498136 		4 0.851 0.080 11 69552350 intergenic variant A/C snv 0.68 0.700 1.000 2 2015 2018
dbSNP: rs10816595
rs10816595 		4 0.851 0.080 9 107947454 regulatory region variant A/G snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs12512631
rs12512631 		3 0.882 0.200 4 71735614 intergenic variant T/C snv 0.35 0.010 1.000 1 2013 2013
dbSNP: rs2111398
rs2111398 		3 0.882 0.080 12 12922268 downstream gene variant A/G snv 0.49 0.700 1.000 1 2015 2015
dbSNP: rs2695237
rs2695237 		3 0.882 0.080 1 226415934 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs7041168
rs7041168 		3 0.882 0.080 9 107936435 intergenic variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs75691080
rs75691080 		3 0.882 0.080 20 63638397 downstream gene variant C/T snv 9.1E-02 0.700 1.000 1 2015 2015
dbSNP: rs7855483
rs7855483 		1 1.000 0.080 9 32372464 intergenic variant C/T snv 0.79 0.010 1.000 1 2010 2010
dbSNP: rs10813813
rs10813813
ACO1
1 1.000 0.080 9 32422404 intron variant A/T snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs17288067
rs17288067
ACO1
1 1.000 0.080 9 32409048 intron variant G/A snv 0.14 0.010 1.000 1 2010 2010
dbSNP: rs1636744
rs1636744
AHR
4 0.851 0.080 7 16944656 intron variant C/T snv 0.31 0.700 1.000 2 2015 2018
dbSNP: rs1057519786
rs1057519786
ARAF
5 0.882 0.160 X 47566722 missense variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519876
rs1057519876
ARAF
3 0.882 0.160 X 47566721 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs72704658
rs72704658
ARNT
3 0.882 0.080 1 150860534 intron variant T/C snv 0.33 0.700 1.000 1 2018 2018
dbSNP: rs73008229
rs73008229
ATM ; C11orf65
3 0.882 0.080 11 108316962 intron variant G/A snv 0.11 0.700 1.000 1 2018 2018
dbSNP: rs1023835002
rs1023835002
B2M ; PATL2
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519877
rs1057519877
B2M ; PATL2
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
B2M ; PATL2
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 24 2003 2020
dbSNP: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2003 2005
dbSNP: rs121913366
rs121913366
BRAF
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.710 1.000 2 2016 2017
dbSNP: rs121913338
rs121913338
BRAF
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913351
rs121913351
BRAF
9 0.776 0.240 7 140781611 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016