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: rs104894419
rs104894419
LIG4
8 0.807 0.360 13 108208829 stop gained G/A snv 9.9E-05 7.0E-05 0.700 0
dbSNP: rs1057517992
rs1057517992
KMT2D
2 0.925 0.240 12 49031861 stop gained G/A snv 0.700 0
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 0
dbSNP: rs121913527
rs121913527
KRAS
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 0
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs587780174
rs587780174
CHEK2
7 0.827 0.360 22 28695239 frameshift variant A/- delins 4.4E-05 5.6E-05 0.700 0
dbSNP: rs730882018
rs730882018
TP53
5 0.851 0.320 17 7676153 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs10509328
rs10509328
LOC105378351
1 1.000 0.160 10 71007652 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs17112190
rs17112190
LCOR
1 1.000 0.160 10 96880089 intron variant G/A snv 0.15 0.800 1.000 1 2013 2013
dbSNP: rs1994816
rs1994816
LOC105377564
1 1.000 0.160 4 180047278 intron variant G/A snv 0.27 0.800 1.000 1 2013 2013
dbSNP: rs2055729
rs2055729 		1 1.000 0.160 8 9935152 intergenic variant G/A snv 0.54 0.800 1.000 1 2013 2013
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.800 1.000 1 2013 2013
dbSNP: rs2302777
rs2302777
MED24
2 0.925 0.200 17 40023239 synonymous variant A/G snv 0.39 0.30 0.800 1.000 1 2013 2013
dbSNP: rs780179
rs780179
CDH12
1 1.000 0.160 5 22812155 intron variant T/C snv 0.53 0.800 1.000 1 2013 2013
dbSNP: rs1006752
rs1006752
DTNB ; DTNB-AS1
1 1.000 0.160 2 25441122 intron variant C/T snv 0.12 0.700 1.000 1 2013 2013
dbSNP: rs1016669
rs1016669
ULK4
1 1.000 0.160 3 41852948 intron variant T/C snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs10180663
rs10180663
DTNB
1 1.000 0.160 2 25410373 intron variant T/A;C;G snv 0.700 1.000 1 2013 2013
dbSNP: rs10212536
rs10212536
ULK4
1 1.000 0.160 3 41785534 intron variant A/C;G snv 0.700 1.000 1 2011 2011
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: rs1025646
rs1025646
ULK4
1 1.000 0.160 3 41712930 intron variant A/T snv 0.26 0.700 1.000 1 2011 2011
dbSNP: rs1034447
rs1034447
LOC105378110
1 1.000 0.160 6 164192425 intergenic variant C/T snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs10452020
rs10452020
ULK4
1 1.000 0.160 3 41774459 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs10452022
rs10452022
ULK4
1 1.000 0.160 3 41774550 intron variant G/A;C snv 0.700 1.000 1 2011 2011
dbSNP: rs10485986
rs10485986
DNAH11
1 1.000 0.160 7 21867059 intron variant C/T snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs104894226
rs104894226
HRAS ; LRRC56
29 0.658 0.560 11 534285 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016