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: rs63750228
rs63750228
MSH2
1 1.000 0.080 2 47429926 missense variant C/A;G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63751067
rs63751067
MSH2
1 1.000 0.080 2 47410244 frameshift variant CTAGGACTGTGT/A delins 0.010 1.000 1 2006 2006
dbSNP: rs876661188
rs876661188
MLH1
1 1.000 0.080 3 37050573 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs11479
rs11479
TYMP ; SCO2
2 0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 0.010 1.000 1 2014 2014
dbSNP: rs17868323
rs17868323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
2 0.925 0.160 2 233682324 missense variant T/A;G snv 0.59 0.010 1.000 1 2002 2002
dbSNP: rs41526344
rs41526344
CNTN4
2 0.925 0.120 3 2943458 intron variant G/A snv 7.5E-02 0.010 1.000 1 2017 2017
dbSNP: rs17224367
rs17224367
MSH2
3 0.882 0.160 2 47429833 missense variant C/G;T snv 1.5E-03 0.010 1.000 1 2006 2006
dbSNP: rs4751240
rs4751240
DOCK1
3 0.882 0.120 10 127338145 intron variant G/A snv 9.0E-02 0.010 1.000 1 2017 2017
dbSNP: rs63750006
rs63750006
MSH2
3 0.882 0.160 2 47429920 stop gained C/A;G;T snv 5.5E-04; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs63750070
rs63750070
MSH2
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.010 1.000 1 2006 2006
dbSNP: rs1131341
rs1131341
NQO1
4 0.925 0.160 16 69714966 missense variant G/A;C snv 3.2E-02 2.6E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs587778964
rs587778964
MLH1
4 0.882 0.160 3 37048604 missense variant A/C;T snv 0.010 1.000 1 2006 2006
dbSNP: rs63750114
rs63750114
MLH1
5 0.827 0.160 3 37049015 stop gained C/A;T snv 4.9E-04 0.010 1.000 1 2007 2007
dbSNP: rs843711
rs843711
ACYP2
7 0.790 0.200 2 54251980 intron variant C/T snv 0.41 0.010 1.000 1 2019 2019
dbSNP: rs11896604
rs11896604
ACYP2
8 0.776 0.200 2 54252062 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs386656364
rs386656364
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 missense variant CG/AA mnv 0.010 1.000 1 2002 2002
dbSNP: rs771314938
rs771314938
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/- del 0.010 1.000 1 2002 2002
dbSNP: rs879625015
rs879625015
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
8 0.807 0.160 2 233682328 frameshift variant CG/A delins 0.010 1.000 1 2002 2002
dbSNP: rs6713088
rs6713088
ACYP2
9 0.763 0.200 2 54118332 intron variant C/G snv 0.48 0.010 1.000 1 2019 2019
dbSNP: rs6898743
rs6898743
GHR
9 0.776 0.160 5 42602390 intron variant C/G snv 0.78 0.010 1.000 1 2014 2014
dbSNP: rs140693
rs140693
MBD4
10 0.763 0.280 3 129436608 missense variant C/T snv 5.8E-02 3.1E-02 0.010 1.000 1 2009 2009
dbSNP: rs4135385
rs4135385
CTNNB1
14 0.742 0.320 3 41237949 non coding transcript exon variant A/G snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs63750447
rs63750447
MLH1
17 0.716 0.200 3 37025749 missense variant T/A snv 2.7E-03 7.5E-04 0.020 0.500 2 2007 2019
dbSNP: rs2043556
rs2043556
PRKG1 ; MIR605
17 0.716 0.440 10 51299646 non coding transcript exon variant T/C snv 0.25 0.24 0.010 1.000 1 2012 2012
dbSNP: rs2839698
rs2839698
MRPL23 ; H19 ; MIR675
25 0.662 0.520 11 1997623 non coding transcript exon variant G/A snv 0.41 0.010 1.000 1 2017 2017