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: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 0.500 2 2014 2018
dbSNP: rs1136410
rs1136410
PARP1
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
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 2020 2020
dbSNP: rs1454328441
rs1454328441
MUC1
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs199647144
rs199647144
INSRR ; NTRK1
1 1 156842109 missense variant T/C;G snv 8.8E-05; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs2070803
rs2070803
TRIM46
5 0.925 0.080 1 155185239 intron variant G/A snv 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2010 2010
dbSNP: rs2564978
rs2564978
CD55
6 0.827 0.080 1 207321071 upstream gene variant T/C snv 0.77 0.010 1.000 1 2017 2017
dbSNP: rs4072037
rs4072037
MUC1
22 0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs4844880
rs4844880
HSD11B1 ; HSD11B1-AS1
4 0.882 0.240 1 209697571 intron variant A/T snv 0.70 0.010 1.000 1 2015 2015
dbSNP: rs586339
rs586339
KDM4A
2 1.000 0.080 1 43671586 missense variant C/A;G;T snv 0.70 0.78 0.010 1.000 1 2017 2017
dbSNP: rs689465
rs689465
PTGS2 ; PACERR
7 0.851 0.200 1 186681714 upstream gene variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs765660823
rs765660823
DDR2
4 0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs759435862
rs759435862
KIDINS220
5 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 0.020 1.000 2 2011 2016
dbSNP: rs1057519696
rs1057519696
ALK
5 1.000 0.040 2 29214054 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1227480017
rs1227480017
RRM2
1 2 10122697 synonymous variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs12613347
rs12613347
CASP10
1 2 201190589 intron variant C/T snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1347093
rs1347093
MIR217HG ; LOC105374690
4 0.882 0.080 2 56019205 intron variant G/T snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs3087386
rs3087386
REV1
8 0.790 0.160 2 99439044 missense variant A/G snv 0.58 0.61 0.010 1.000 1 2008 2008
dbSNP: rs3087399
rs3087399
REV1
4 0.882 0.120 2 99438696 missense variant T/C snv 0.13 0.17 0.010 1.000 1 2008 2008
dbSNP: rs3811047
rs3811047
IL37
10 0.807 0.400 2 112913833 missense variant A/G snv 0.71 0.60 0.010 1.000 1 2014 2014
dbSNP: rs577715207
rs577715207
TP63
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2006 2006
dbSNP: rs10937405
rs10937405
TP63
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 1.000 1 2011 2011