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: rs63751701
rs63751701
MLH1 ; EPM2AIP1
3 0.925 0.080 3 36993663 stop gained G/A;T snv 0.010 1.000 1 2009 2009
dbSNP: rs6474387
rs6474387
IKBKB
3 0.882 0.080 8 42328734 intron variant T/C snv 0.76 0.010 1.000 1 2013 2013
dbSNP: rs6598964
rs6598964
LIN28A
3 0.882 0.080 1 26419836 intron variant A/G snv 0.67 0.010 1.000 1 2017 2017
dbSNP: rs730881834
rs730881834
MUTYH
3 0.882 0.120 1 45332181 missense variant G/C snv 0.010 1.000 1 2018 2018
dbSNP: rs760891242
rs760891242
XPC
3 0.925 0.080 3 14168309 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs774904310
rs774904310
CDKN2A
3 0.925 0.080 9 21971055 frameshift variant C/- delins 0.010 1.000 1 2009 2009
dbSNP: rs7911488
rs7911488
ATP5MD ; MIR1307
3 0.882 0.080 10 103394332 5 prime UTR variant A/G snv 0.34 0.26 0.010 1.000 1 2017 2017
dbSNP: rs9869263
rs9869263
CLDN1 ; LOC107986170
3 0.925 0.080 3 190312891 synonymous variant A/C;G;T snv 8.0E-06; 0.83; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs997476
rs997476 		3 0.882 0.080 4 102620848 downstream gene variant G/T snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs10934578
rs10934578
CASR
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.020 1.000 2 2008 2017
dbSNP: rs10222633
rs10222633
CASR
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs11721827
rs11721827
TLR3
4 0.851 0.200 4 186069983 intron variant A/C snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs12591359
rs12591359
CYP19A1 ; MIR4713HG
4 0.925 0.080 15 51247171 intron variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs1383147053
rs1383147053
DLD
4 0.882 0.120 7 107901762 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1450081432
rs1450081432
PMS2
4 0.851 0.120 7 5987230 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1902432
rs1902432
PCAT1 ; LOC105375751
4 0.851 0.120 8 127012566 intron variant A/G snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs2736118
rs2736118
TERT
4 0.882 0.120 5 1260080 intron variant T/C snv 0.33 0.010 1.000 1 2013 2013
dbSNP: rs2737
rs2737
CDK5RAP3
4 0.851 0.080 17 47981705 missense variant T/C snv 0.25 0.19 0.010 1.000 1 2011 2011
dbSNP: rs2770150
rs2770150 		4 0.925 0.080 9 117700861 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2016 2016
dbSNP: rs2870820
rs2870820
MDM2
4 0.851 0.120 12 68808546 intron variant C/T snv 0.30 0.010 1.000 1 2016 2016
dbSNP: rs3219145
rs3219145
PARP1
4 0.882 0.120 1 226363128 missense variant T/C;G snv 1.2E-02; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs3804513
rs3804513
IL17A
4 0.851 0.080 6 52188399 intron variant A/T snv 2.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs6588147
rs6588147
LEPR
4 0.851 0.080 1 65469811 intron variant G/A snv 0.70 0.010 1.000 1 2008 2008
dbSNP: rs756363791
rs756363791
OGG1
4 0.882 0.080 3 9756823 missense variant G/A snv 2.0E-05 0.010 1.000 1 2011 2011
dbSNP: rs7987649
rs7987649
FLT1
4 0.925 0.080 13 28320278 intron variant A/G snv 0.35 0.010 1.000 1 2014 2014