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: rs189720575
rs189720575
PTCSC2
1 1.000 0.080 9 97787047 intron variant G/A snv 4.5E-04 0.700 1.000 1 2018 2018
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 1999 1999
dbSNP: rs6489769
rs6489769
RAD52
4 0.851 0.120 12 963799 intron variant C/A;T snv 0.010 1.000 1 2012 2012
dbSNP: rs10849605
rs10849605
RAD52
4 0.882 0.080 12 955272 intron variant T/C snv 0.49 0.010 1.000 1 2015 2015
dbSNP: rs72754495
rs72754495
IPPK ; CENPP
1 1.000 0.080 9 92613166 3 prime UTR variant G/A snv 5.2E-03 4.4E-03 0.700 1.000 1 2018 2018
dbSNP: rs78359677
rs78359677
LRRC8D
1 1.000 0.080 1 89907211 intron variant A/C;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs7953330
rs7953330
WNK1
2 0.925 0.080 12 889653 intron variant G/C snv 0.28 0.700 1.000 1 2017 2017
dbSNP: rs121909229
rs121909229
PTEN
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121909224
rs121909224
PTEN
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs4513061
rs4513061
AGBL1
6 0.807 0.080 15 86428401 intron variant G/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs9602270
rs9602270 		1 1.000 0.080 13 83706928 intergenic variant A/T snv 7.6E-02 0.700 1.000 1 2017 2017
dbSNP: rs7403155
rs7403155
MORF4L1
1 1.000 0.080 15 78838082 intron variant G/A snv 0.20 0.700 1.000 1 2017 2017
dbSNP: rs770167074
rs770167074
BMP2K
1 1.000 0.080 4 78826060 missense variant G/A;C snv 1.6E-05; 4.0E-06 0.700 0
dbSNP: rs3813565
rs3813565
CHRNB4 ; LOC105370913
6 0.851 0.080 15 78727268 splice region variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs8040868
rs8040868
CHRNA3
17 0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 0.700 1.000 1 2017 2017
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2007 2007
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2007 2007
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.010 1.000 1 2007 2007
dbSNP: rs1057519997
rs1057519997
TP53
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
TP53
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
TP53
21 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
TP53
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
TP53
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016