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: rs12532
rs12532
MSX1
10 0.790 0.200 4 4863419 3 prime UTR variant A/G snv 0.36 0.010 < 0.001 1 2014 2014
dbSNP: rs1260256848
rs1260256848
BRD2
2 6 32976634 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2008 2008
dbSNP: rs1279983084
rs1279983084
FANCA
2 16 89752163 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs12918952
rs12918952
WWOX
7 0.851 0.120 16 78386878 missense variant G/A;C;T snv 0.010 < 0.001 1 2018 2018
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs13254738
rs13254738
PCAT1 ; PRNCR1 ; CASC19
8 0.807 0.160 8 127092098 non coding transcript exon variant C/A;T snv 0.010 < 0.001 1 2008 2008
dbSNP: rs140404896
rs140404896
FANCI
3 1.000 0.120 15 89303898 missense variant G/A snv 1.2E-04 1.1E-04 0.010 < 0.001 1 2015 2015
dbSNP: rs141427711
rs141427711
NLRP2
2 19 54982636 missense variant C/A;T snv 4.0E-06; 1.2E-04 0.010 < 0.001 1 2013 2013
dbSNP: rs1425802
rs1425802
LOC100507144
2 11 35136854 intron variant T/C snv 0.25 0.010 < 0.001 1 2016 2016
dbSNP: rs144779807
rs144779807
TERT
7 0.827 0.120 5 1268529 missense variant C/A;T snv 4.0E-06; 4.0E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs1478161644
rs1478161644
WDHD1
1 14 55008696 missense variant T/C snv 0.010 < 0.001 1 2011 2011
dbSNP: rs1635498
rs1635498
EXO1
9 0.807 0.160 1 241881973 missense variant C/A;G;T snv 0.96 0.010 < 0.001 1 2016 2016
dbSNP: rs1635517
rs1635517
EXO1
2 1 241848731 splice region variant G/A;C;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs17217772
rs17217772
MSH2
10 0.790 0.240 2 47410107 missense variant A/C;G;T snv 5.8E-03 0.010 < 0.001 1 2010 2010
dbSNP: rs17577
rs17577
MMP9 ; SLC12A5-AS1
31 0.649 0.520 20 46014472 missense variant G/A;C snv 0.16 0.010 < 0.001 1 2018 2018
dbSNP: rs17620
rs17620
TNFRSF10A
2 8 23202743 missense variant T/C snv 0.54 0.43 0.010 < 0.001 1 2014 2014
dbSNP: rs1776148
rs1776148
EXO1
9 0.807 0.160 1 241879243 missense variant A/G snv 0.66 0.66 0.010 < 0.001 1 2016 2016
dbSNP: rs1799943
rs1799943
BRCA2
5 0.925 0.080 13 32316435 5 prime UTR variant G/A;C;T snv 0.25 0.010 < 0.001 1 2016 2016
dbSNP: rs1800371
rs1800371
TP53
15 0.742 0.240 17 7676230 missense variant G/A;T snv 1.2E-03 0.010 < 0.001 1 2008 2008
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs1800624
rs1800624
AGER ; PBX2
33 0.658 0.480 6 32184610 upstream gene variant A/G;T snv 0.010 < 0.001 1 2015 2015
dbSNP: rs1800896
rs1800896
IL10 ; IL19
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 < 0.001 1 2015 2015
dbSNP: rs1805386
rs1805386
LIG4
4 0.925 0.080 13 108209565 synonymous variant A/G snv 0.13 0.14 0.010 < 0.001 1 2014 2014
dbSNP: rs1898830
rs1898830
TLR2
10 0.807 0.280 4 153687301 intron variant A/G snv 0.30 0.010 < 0.001 1 2019 2019