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: rs35866072
rs35866072
MMP8
17 0.716 0.360 11 102713373 missense variant T/G snv 6.0E-02 9.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs34009635
rs34009635
MMP8
17 0.716 0.360 11 102713445 missense variant A/G snv 2.5E-03 6.2E-04 0.010 1.000 1 2018 2018
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 1.000 2 2014 2014
dbSNP: rs4925
rs4925
GSTO1
28 0.677 0.560 10 104263031 missense variant C/A snv 0.25 0.23 0.010 < 0.001 1 2012 2012
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs227060
rs227060
ATM ; C11orf65
3 0.882 0.160 11 108334154 intron variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs227092
rs227092
ATM ; C11orf65
1 1.000 0.040 11 108366056 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.010 1.000 1 2016 2016
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs121913237
rs121913237
NRAS
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1997623
rs1997623
CAV1
9 0.807 0.160 7 116525306 missense variant A/C;G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs3807987
rs3807987
CAV1
17 0.732 0.280 7 116539780 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs12672038
rs12672038
CAV1
4 0.925 0.080 7 116547052 intron variant G/A snv 7.6E-02 0.010 1.000 1 2013 2013
dbSNP: rs3757733
rs3757733
CAV1
4 1.000 0.040 7 116553675 intron variant T/A snv 0.26 0.010 1.000 1 2013 2013
dbSNP: rs7804372
rs7804372
CAV1
19 0.716 0.320 7 116554174 intron variant T/A snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs3807992
rs3807992
CAV1
5 0.925 0.080 7 116557191 intron variant G/A snv 0.28 0.010 1.000 1 2013 2013
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2006 2008
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.060 1.000 6 2002 2016
dbSNP: rs201820837
rs201820837
ETV6
2 0.925 0.040 12 11869532 missense variant G/A;T snv 2.4E-05; 6.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs2853677
rs2853677
TERT
19 0.724 0.240 5 1287079 3 prime UTR variant G/A snv 0.63 0.010 1.000 1 2019 2019
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
dbSNP: rs121913461
rs121913461
ABL1
5 0.851 0.120 9 130862970 missense variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs121913459
rs121913459
ABL1
25 0.672 0.160 9 130872896 missense variant C/T snv 0.100 1.000 13 2009 2018