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: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2009 2009
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 1.000 3 2012 2016
dbSNP: rs373584770
rs373584770
CASP1
5 0.827 0.120 11 105030337 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs3851634
rs3851634
POLR3B
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
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: rs7325927
rs7325927
FAM155A ; FAM155A-IT1
2 0.925 0.040 13 107823165 intron variant C/T snv 0.38 0.010 1.000 1 2010 2010
dbSNP: rs1555138291
rs1555138291
ATM ; C11orf65
2 0.925 0.240 11 108345859 stop gained G/A snv 0.700 0
dbSNP: rs3092993
rs3092993
ATM ; C11orf65
5 0.827 0.040 11 108364388 intron variant C/A snv 0.11 0.010 1.000 1 2007 2007
dbSNP: rs374524467
rs374524467
PITX2
5 0.827 0.040 4 110632961 missense variant A/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587777894
rs587777894
MTOR
9 0.776 0.240 1 11124516 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519917
rs1057519917
MTOR
7 0.807 0.160 1 11124517 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519913
rs1057519913
MTOR
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs786205165
rs786205165
MTOR
4 0.882 0.120 1 11157173 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
5 0.851 0.240 1 11157174 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs11196067
rs11196067
VTI1A
10 0.752 0.160 10 112709306 intron variant A/T snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913255
rs121913255
NRAS
26 0.667 0.400 1 114713907 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2008
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2008 2008
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.030 1.000 3 2011 2020
dbSNP: rs17748
rs17748
TREH ; PHLDB1
5 0.827 0.080 11 118657714 3 prime UTR variant C/T snv 0.18 0.010 1.000 1 2015 2015
dbSNP: rs3856806
rs3856806
PPARG
41 0.637 0.440 3 12434058 synonymous variant C/T snv 0.13 0.11 0.010 1.000 1 2017 2017
dbSNP: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018