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: rs334348
rs334348
TGFBR1
5 0.851 0.160 9 99150189 3 prime UTR variant A/G;T snv 0.010 1.000 1 2020 2020
dbSNP: rs33438
rs33438
ZNF536
2 1.000 0.080 19 30454165 intron variant G/A snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs3757769
rs3757769
SND1
2 1.000 0.080 7 127901009 intron variant A/G snv 9.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs6021247
rs6021247
NFATC2
7 1.000 0.080 20 51492442 intron variant G/A snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs7085532
rs7085532
TCF7L2
2 1.000 0.080 10 113099704 intron variant G/A snv 0.72 0.010 1.000 1 2020 2020
dbSNP: rs7778413
rs7778413
SND1
2 1.000 0.080 7 127717662 intron variant T/C snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs10399805
rs10399805
CHI3L1
7 0.851 0.240 1 203186870 upstream gene variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1047972
rs1047972
AURKA
19 0.716 0.240 20 56386407 missense variant T/C snv 0.85 0.84 0.010 1.000 1 2019 2019
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1137100
rs1137100
LEPR
39 0.627 0.640 1 65570758 missense variant A/G snv 0.30 0.25 0.010 < 0.001 1 2019 2019
dbSNP: rs135745
rs135745 		13 0.763 0.200 22 38287631 downstream gene variant G/C snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs1533767
rs1533767
WNT11
5 0.851 0.120 11 76194756 splice region variant G/A snv 0.27 0.23 0.010 1.000 1 2019 2019
dbSNP: rs2120243
rs2120243
VEPH1
3 0.925 0.200 3 157429779 intron variant A/C snv 0.59 0.010 1.000 1 2019 2019
dbSNP: rs3212227
rs3212227
IL12B
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs3816527
rs3816527
PTX3 ; VEPH1
9 0.882 0.160 3 157437525 missense variant C/A snv 0.64 0.64 0.010 1.000 1 2019 2019
dbSNP: rs3834129
rs3834129
CASP8
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.010 1.000 1 2019 2019
dbSNP: rs587778718
rs587778718
TP53
2 1.000 0.080 17 7674959 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs587782705
rs587782705
TP53
8 0.807 0.280 17 7675157 missense variant G/A snv 8.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs642961
rs642961 		14 0.732 0.440 1 209815925 intergenic variant A/G snv 0.84 0.010 1.000 1 2019 2019
dbSNP: rs6691378
rs6691378
CHI3L1
6 0.882 0.160 1 203187994 upstream gene variant G/A snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs708111
rs708111 		4 0.882 0.120 1 228003664 upstream gene variant G/A snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs7799039
rs7799039
LOC105375494
33 0.649 0.560 7 128238730 upstream gene variant G/A;C snv 0.010 < 0.001 1 2019 2019
dbSNP: rs987525
rs987525
CCDC26
7 0.807 0.160 8 128933908 intron variant C/A snv 0.31 0.010 1.000 1 2019 2019
dbSNP: rs9879992
rs9879992
GSK3B
4 0.882 0.120 3 119993874 intron variant A/G snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs28362491
rs28362491
NFKB1 ; LOC105377621
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.020 1.000 2 2018 2019