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: rs2301641
rs2301641
ABCB5
1 1.000 0.040 7 20658647 missense variant A/G snv 0.33 0.40 0.010 1.000 1 2013 2013
dbSNP: rs749499406
rs749499406
ACD
1 1.000 0.040 16 67658771 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs4238833
rs4238833
AFG3L1P
2 1.000 0.040 16 89984281 intron variant G/T snv 0.60 0.700 1.000 2 2011 2012
dbSNP: rs4785763
rs4785763
AFG3L1P
3 0.925 0.120 16 90000528 non coding transcript exon variant A/C;T snv 0.800 1.000 2 2009 2017
dbSNP: rs11076650
rs11076650
AFG3L1P
1 1.000 0.040 16 90001533 non coding transcript exon variant G/A snv 0.49 0.700 1.000 1 2011 2011
dbSNP: rs11648898
rs11648898
AFG3L1P
1 1.000 0.040 16 89979578 non coding transcript exon variant A/G snv 0.17 0.700 1.000 1 2011 2011
dbSNP: rs4408545
rs4408545
AFG3L1P
2 1.000 0.040 16 89977620 non coding transcript exon variant C/G;T snv 0.40 0.700 1.000 1 2011 2011
dbSNP: rs4785759
rs4785759
AFG3L1P
1 1.000 0.040 16 89984472 intron variant A/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1636744
rs1636744
AHR
4 0.851 0.080 7 16944656 intron variant C/T snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs1800522
rs1800522
AIRE
1 1.000 0.040 21 44297667 synonymous variant T/C snv 0.010 1.000 1 2010 2010
dbSNP: rs1057519804
rs1057519804
AKT1
2 1.000 0.040 14 104776711 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs397514644
rs397514644
AKT1
2 0.925 0.040 14 104780190 missense variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs387906659
rs387906659
AKT2
14 0.742 0.280 19 40257052 stop gained C/A;T snv 0.010 1.000 1 2008 2008
dbSNP: rs397514606
rs397514606
AKT3
14 0.763 0.320 1 243695714 missense variant C/T snv 0.710 1.000 1 2008 2008
dbSNP: rs2353033
rs2353033
ANKRD11 ; LOC100287036
2 1.000 0.040 16 89319153 intron variant C/T snv 0.51 0.700 1.000 1 2012 2012
dbSNP: rs137854567
rs137854567
APC
3 0.882 0.120 5 112819272 missense variant C/A;G;T snv 4.0E-06; 6.7E-04 0.010 1.000 1 2018 2018
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.020 1.000 2 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.010 1.000 1 2006 2006
dbSNP: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.010 1.000 1 2006 2006
dbSNP: rs1231071385
rs1231071385
ATF2
1 1.000 0.040 2 175093177 frameshift variant -/G ins 0.010 1.000 1 2010 2010
dbSNP: rs1801516
rs1801516
ATM
39 0.627 0.400 11 108304735 missense variant G/A snv 0.11 0.11 0.810 1.000 3 2011 2017
dbSNP: rs1800054
rs1800054
ATM
7 0.827 0.080 11 108227849 missense variant C/G;T snv 7.1E-03 0.010 1.000 1 2008 2008
dbSNP: rs587779826
rs587779826
ATM
5 0.851 0.360 11 108267344 splice donor variant T/C snv 4.0E-06 0.700 0