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: rs1384093596
rs1384093596
DYRK2
1 1.000 0.040 12 67657500 missense variant C/T snv 0.700 0
dbSNP: rs1402272180
rs1402272180
AKT3
1 1.000 0.040 1 243637661 missense variant C/T snv 7.0E-06 0.700 0
dbSNP: rs1466858740
rs1466858740
PRKCB
1 1.000 0.040 16 24180881 missense variant G/A snv 0.700 0
dbSNP: rs1558650888
rs1558650888
DNMT3A
2 0.925 0.040 2 25234308 missense variant G/A snv 0.700 0
dbSNP: rs1567176006
rs1567176006
SLX4
1 1.000 0.040 16 3602208 frameshift variant CT/- del 0.700 0
dbSNP: rs17855787
rs17855787
PDK2
1 1.000 0.040 17 50109341 missense variant G/A snv 0.700 0
dbSNP: rs371854396
rs371854396
PINK1
1 1.000 0.040 1 20638098 missense variant C/G;T snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs375412266
rs375412266
MAPKAPK3
1 1.000 0.040 3 50617647 missense variant C/G;T snv 2.1E-04; 4.1E-06 0.700 0
dbSNP: rs757496714
rs757496714
TRIB3
1 1.000 0.040 20 388189 missense variant C/T snv 4.0E-06 0.700 0
dbSNP: rs770462360
rs770462360
CDC42BPG
1 1.000 0.040 11 64839070 missense variant G/A snv 2.0E-05 0.700 0
dbSNP: rs779221554
rs779221554
GUCY2F
1 1.000 0.040 X 109430395 missense variant C/A;T snv 0.700 0
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 < 0.001 2 2005 2020
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 < 0.001 1 2016 2016
dbSNP: rs1205454520
rs1205454520
PTEN ; KLLN
10 0.763 0.120 10 87864059 5 prime UTR variant -/G delins 7.2E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1799945
rs1799945
HFE ; LOC108783645
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2017 2017
dbSNP: rs1800562
rs1800562
HFE ; LOC108783645
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs374052197
rs374052197
PDPN
5 0.882 0.040 1 13610421 missense variant G/A;T snv 8.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs745934102
rs745934102
PDPN
5 0.882 0.040 1 13607281 missense variant G/A snv 3.2E-05 1.4E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs758272654
rs758272654
GNAS
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs1128503
rs1128503
ABCB1
64 0.564 0.760 7 87550285 synonymous variant A/G snv 0.54 0.63 0.020 0.500 2 2009 2020
dbSNP: rs1273593548
rs1273593548
PIK3CG
19 0.716 0.160 7 106867593 missense variant T/G snv 8.4E-06 0.020 0.500 2 2007 2017
dbSNP: rs118101777
rs118101777
IDH2
42 0.614 0.280 15 90087472 missense variant C/T snv 2.0E-03 1.6E-03 0.080 0.875 8 2013 2020
dbSNP: rs55819519
rs55819519
TP53
40 0.627 0.400 17 7673751 missense variant C/A;G;T snv 1.6E-04 1.3E-04 0.080 0.875 8 2010 2016
dbSNP: rs121913500
rs121913500
IDH1
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.100 0.969 32 2009 2020