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: rs7157599
rs7157599
DEGS2
6 0.925 0.040 14 100159565 missense variant C/T snv 0.73 0.76 0.010 1.000 1 2015 2015
dbSNP: rs116237496
rs116237496 		1 1.000 0.040 8 101033687 upstream gene variant T/C snv 4.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs76444744
rs76444744
TBC1D8
1 1.000 0.040 2 101088883 intron variant T/C snv 8.1E-03 0.700 1.000 1 2015 2015
dbSNP: rs2162560
rs2162560
DNMT1
2 1.000 0.040 19 10168778 intron variant G/A snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs1566823361
rs1566823361
FGF14
18 0.742 0.440 13 101726732 frameshift variant -/G delins 0.700 0
dbSNP: rs7840202
rs7840202
UBR5
4 0.851 0.160 8 102296172 intron variant A/C snv 0.21 0.700 1.000 1 2011 2011
dbSNP: rs363050
rs363050
SNAP25 ; SNAP25-AS1
8 0.790 0.240 20 10253609 intron variant G/A snv 0.57 0.010 1.000 1 2019 2019
dbSNP: rs1057518813
rs1057518813
ERCC5 ; BIVM-ERCC5
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs145606134
rs145606134
RAB40AL ; LINC00630
5 0.882 0.240 X 102937494 missense variant A/G snv 5.4E-03 4.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 1.000 1 2016 2016
dbSNP: rs3764650
rs3764650
ABCA7
9 0.790 0.200 19 1046521 intron variant T/G snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs75316710
rs75316710
ATP2B2
1 1.000 0.040 3 10508052 intron variant A/G snv 2.9E-02 0.700 1.000 1 2015 2015
dbSNP: rs117932393
rs117932393
LINC01505
1 1.000 0.040 9 106390428 intron variant C/T snv 8.4E-03 0.700 1.000 1 2015 2015
dbSNP: rs189037
rs189037
ATM ; NPAT
22 0.689 0.400 11 108223106 5 prime UTR variant G/A snv 0.49 0.010 < 0.001 1 2015 2015
dbSNP: rs1314736087
rs1314736087
SYBU
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs80356733
rs80356733
TARDBP
7 0.790 0.200 1 11022451 missense variant G/T snv 0.010 1.000 1 2008 2008
dbSNP: rs80356734
rs80356734
TARDBP
4 0.851 0.160 1 11022464 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs190797076
rs190797076 		1 1.000 0.040 4 110589931 intergenic variant G/A;T snv 9.7E-03 0.700 1.000 1 2015 2015
dbSNP: rs761715536
rs761715536
ADRA2A
3 1.000 0.040 10 111079092 stop gained G/A;T snv 6.4E-06; 1.3E-05 0.010 1.000 1 2019 2019
dbSNP: rs863225264
rs863225264
MTOR
6 0.827 0.240 1 11130747 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs184904296
rs184904296
LOC112268446
1 1.000 0.040 3 112431166 intergenic variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs74434895
rs74434895
MAGI3
1 1.000 0.040 1 113391450 intron variant G/A snv 6.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs1800497
rs1800497
ANKK1
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2015 2015
dbSNP: rs61819372
rs61819372
MAGI3
1 1.000 0.040 1 113529488 intron variant C/A snv 6.8E-03 0.700 1.000 1 2015 2015
dbSNP: rs10447760
rs10447760 		4 0.851 0.040 7 114083210 upstream gene variant C/T snv 0.17 0.010 < 0.001 1 2019 2019