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: rs10069690
rs10069690
TERT
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019
dbSNP: rs1048943
rs1048943
CYP1A1
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2008 2016
dbSNP: rs10508765
rs10508765 		2 1.000 10 31679855 intergenic variant A/G snv 0.20 0.700 1.000 1 2019 2019
dbSNP: rs1056827
rs1056827
CYP1B1 ; CYP1B1-AS1
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs1065827
rs1065827 		1 16 65949614 intergenic variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs10815466
rs10815466
KANK1
2 1.000 9 680714 intron variant G/A snv 0.25 0.700 1.000 1 2019 2019
dbSNP: rs10835889
rs10835889 		2 1.000 11 32348834 intergenic variant G/A snv 0.21 0.700 1.000 1 2019 2019
dbSNP: rs10917151
rs10917151
CDC42
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.700 1.000 2 2018 2019
dbSNP: rs10929757
rs10929757
GREB1
2 1.000 2 11562535 missense variant A/C snv 0.54 0.44 0.700 1.000 1 2018 2018
dbSNP: rs10976689
rs10976689
LOC105375949
2 1.000 9 804886 intergenic variant A/G snv 0.39 0.700 1.000 1 2019 2019
dbSNP: rs11031006
rs11031006
LOC105376607
8 0.882 0.120 11 30204981 intron variant G/A snv 0.11 0.700 1.000 1 2019 2019
dbSNP: rs11031731
rs11031731 		3 0.925 0.040 11 32343884 upstream gene variant G/A snv 0.18 0.700 1.000 1 2018 2018
dbSNP: rs11178393
rs11178393
PTPRR
2 1.000 12 70756878 intron variant T/C snv 8.8E-02 0.700 1.000 1 2019 2019
dbSNP: rs11246001
rs11246001
RIC8A
2 1.000 11 210899 non coding transcript exon variant C/T snv 4.8E-02 0.700 1.000 1 2018 2018
dbSNP: rs11246003
rs11246003
RIC8A
2 1.000 11 213723 non coding transcript exon variant T/G snv 4.7E-02 0.700 1.000 1 2019 2019
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2019 2019
dbSNP: rs116251328
rs116251328 		2 1.000 6 34209733 intergenic variant T/A snv 1.5E-02 0.700 1.000 1 2019 2019
dbSNP: rs117245733
rs117245733
LINC00598
2 1.000 13 40149807 intron variant G/A snv 1.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs1182554992
rs1182554992
ESR1
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs11987640
rs11987640
CSMD1
2 1.000 8 4584258 intron variant G/C snv 0.12 0.700 1.000 1 2017 2017
dbSNP: rs12037376
rs12037376
WNT4
3 0.925 0.040 1 22135618 intron variant G/A snv 0.13 0.700 1.000 1 2018 2018
dbSNP: rs12112075
rs12112075
OGDH
3 0.925 0.080 7 44609201 intron variant G/A snv 1.8E-02 0.010 1.000 1 2017 2017