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: rs267608058
rs267608058
MSH6 ; FBXO11
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 0
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs1323151304
rs1323151304
POLE
2 0.925 0.080 12 132643933 frameshift variant TA/- delins 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs3824999
rs3824999
POLD3
9 0.790 0.080 11 74634505 intron variant T/G snv 0.40 0.700 1.000 4 2012 2019
dbSNP: rs4813802
rs4813802 		11 0.776 0.080 20 6718948 regulatory region variant T/G snv 0.28 0.700 1.000 3 2019 2019
dbSNP: rs73208120
rs73208120
NOS1
9 0.790 0.080 12 117309785 intron variant T/G snv 7.1E-02 0.700 1.000 2 2015 2019
dbSNP: rs10849438
rs10849438 		9 0.790 0.080 12 6302870 intergenic variant T/G snv 1.0E-01 0.700 1.000 1 2019 2019
dbSNP: rs11119608
rs11119608
KCNH1
17 0.708 0.280 1 210816167 intron variant T/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs2279744
rs2279744
MDM2
48 0.605 0.640 12 68808800 intron variant T/G snv 0.31 0.010 1.000 1 2017 2017
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2738783
rs2738783
RTEL1 ; RTEL1-TNFRSF6B
11 0.763 0.160 20 63677259 intron variant T/G snv 0.85 0.700 1.000 1 2019 2019
dbSNP: rs28840750
rs28840750
RHPN2
10 0.776 0.080 19 33029021 intron variant T/G snv 7.6E-02 0.700 1.000 1 2019 2019
dbSNP: rs352144
rs352144
TLR9
3 0.925 0.080 3 52227452 intron variant T/G snv 3.7E-02 0.010 1.000 1 2017 2017
dbSNP: rs4143094
rs4143094
GATA3
12 0.752 0.240 10 8047173 intron variant T/G snv 0.70 0.700 1.000 1 2014 2014
dbSNP: rs73039434
rs73039434
RHPN2
9 0.790 0.080 19 33034013 intron variant T/G snv 0.13 0.700 1.000 1 2019 2019
dbSNP: rs7656411
rs7656411
TLR2
8 0.790 0.320 4 153706503 downstream gene variant T/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs7931342
rs7931342 		20 0.689 0.360 11 69227030 intergenic variant T/G snv 0.58 0.700 1.000 1 2016 2016
dbSNP: rs9831861
rs9831861 		9 0.790 0.080 3 53054269 intron variant T/G snv 0.53 0.700 1.000 1 2019 2019
dbSNP: rs864622607
rs864622607
MSH6 ; FBXO11
3 0.882 0.200 2 47803678 missense variant T/G snv 0.700 0
dbSNP: rs12778366
rs12778366
SIRT1
13 0.724 0.480 10 67883321 upstream gene variant T/C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs1445011
rs1445011 		9 0.790 0.080 5 40280100 intergenic variant T/C;G snv 0.700 1.000 1 2019 2019
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: rs34405347
rs34405347 		10 0.776 0.080 9 98917470 regulatory region variant T/C;G snv 0.700 1.000 1 2019 2019
dbSNP: rs587782513
rs587782513
PMS2
2 0.925 0.080 7 5992023 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2015 2015