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: rs1057519695
rs1057519695
NRAS
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 1997 1997
dbSNP: rs1057519834
rs1057519834
NRAS
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 1997 1997
dbSNP: rs10462020
rs10462020
PER3
2 0.925 0.160 1 7820623 missense variant T/G snv 0.17 0.16 0.010 1.000 1 2015 2015
dbSNP: rs10484561
rs10484561 		6 0.827 0.160 6 32697643 intergenic variant T/G snv 0.13 0.010 1.000 1 2011 2011
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2017 2017
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2014 2014
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 < 0.001 1 2013 2013
dbSNP: rs764562217
rs764562217
TP53
3 0.882 0.120 17 7673308 stop lost T/G snv 2.3E-05 3.5E-05 0.010 1.000 1 2007 2007
dbSNP: rs16978630
rs16978630
TNPO2
2 0.925 0.160 19 12702869 missense variant T/C;G snv 4.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs2272990
rs2272990
RIPK1
1 1.000 0.120 6 3076907 missense variant T/C;G snv 0.91 0.010 1.000 1 2010 2010
dbSNP: rs587780073
rs587780073
TP53
19 0.708 0.400 17 7674262 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs730882026
rs730882026
TP53
15 0.742 0.440 17 7674256 missense variant T/C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
MYD88
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.100 0.895 19 2013 2019
dbSNP: rs25487
rs25487
XRCC1
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2010 2016
dbSNP: rs11045879
rs11045879
SLCO1B1
4 1.000 0.120 12 21229685 intron variant T/C snv 0.18 0.010 1.000 1 2014 2014
dbSNP: rs1227230819
rs1227230819
GDNF ; GDNF-AS1
2 0.925 0.120 5 37815877 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs1426981647
rs1426981647
CHEK2
2 0.925 0.200 22 28710038 missense variant T/C snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1443292790
rs1443292790
CD79B
2 1.000 0.120 17 63929438 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1801018
rs1801018
BCL2
6 0.851 0.240 18 63318646 synonymous variant T/C snv 0.37 0.32 0.010 1.000 1 2017 2017
dbSNP: rs2425752
rs2425752
NCOA5
4 0.851 0.160 20 46073481 intron variant T/C snv 0.79 0.700 1.000 1 2019 2019
dbSNP: rs3758391
rs3758391
SIRT1
11 0.742 0.480 10 67883584 upstream gene variant T/C snv 0.64 0.010 1.000 1 2018 2018
dbSNP: rs3890745
rs3890745
MMEL1
4 0.925 0.200 1 2622185 intron variant T/C snv 0.40 0.700 1.000 1 2019 2019
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.010 1.000 1 2014 2014