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: rs12146774
rs12146774
LOC105370025
1 1.000 0.040 12 119235698 intron variant C/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs2086452
rs2086452
ADAMTS17
1 1.000 0.040 15 100188458 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs55933544
rs55933544
GLDC
1 1.000 0.040 9 6534080 missense variant C/T snv 0.21 0.700 1.000 1 2018 2018
dbSNP: rs137853008
rs137853008
CHEK2
1 1.000 0.040 22 28734673 missense variant C/A snv 0.800 0
dbSNP: rs1332788424
rs1332788424
HLA-DOA
2 1.000 0.040 6 33009477 synonymous variant C/A;T snv 4.3E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs863223301
rs863223301
TP53
2 0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins 0.700 0
dbSNP: rs10208273
rs10208273 		3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.710 1.000 2 2013 2014
dbSNP: rs17206779
rs17206779
ADAMTS6
3 0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48 0.810 1.000 2 2013 2014
dbSNP: rs4148416
rs4148416
ABCC3
3 0.882 0.040 17 50676062 synonymous variant C/T snv 8.7E-02 0.10 0.020 1.000 2 2014 2015
dbSNP: rs454006
rs454006
PRKCG
3 0.882 0.040 19 53886867 intron variant T/C snv 0.36 0.020 1.000 2 2014 2015
dbSNP: rs7591996
rs7591996 		3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.810 1.000 2 2013 2014
dbSNP: rs780673045
rs780673045
MDM2
3 0.882 0.040 12 68839592 missense variant A/G snv 1.2E-05 0.020 1.000 2 1999 2004
dbSNP: rs1061970
rs1061970
COL1A1
3 0.882 0.040 17 50184491 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2014 2014
dbSNP: rs11177386
rs11177386
MDM2
3 0.882 0.040 12 68820362 missense variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs1223868338
rs1223868338
ACTA2 ; FAS
3 0.882 0.040 10 88990884 missense variant G/C snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12879262
rs12879262
MIR4309
3 0.882 0.040 14 102539710 non coding transcript exon variant G/C snv 0.12 0.11 0.010 1.000 1 2018 2018
dbSNP: rs1295925
rs1295925
VMP1
3 0.882 0.040 17 59832902 intron variant T/C snv 0.60 0.010 1.000 1 2018 2018
dbSNP: rs17111750
rs17111750 		3 0.882 0.040 14 20442249 downstream gene variant C/T snv 0.30 0.010 1.000 1 2017 2017
dbSNP: rs199812774
rs199812774
MDM2
3 0.882 0.040 12 68839357 synonymous variant T/C snv 1.8E-04 2.4E-04 0.010 1.000 1 2013 2013
dbSNP: rs201821879
rs201821879
MDM2
3 0.882 0.040 12 68809237 missense variant C/T snv 1.6E-04 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs2075559
rs2075559
COL1A1
3 0.882 0.040 17 50189930 intron variant G/A;C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs2236947
rs2236947
RASSF1
3 0.882 0.040 3 50334001 intron variant C/A snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs231755
rs231755 		3 0.882 0.040 2 203888846 regulatory region variant G/C snv 0.11 0.010 1.000 1 2019 2019
dbSNP: rs235764
rs235764
BMP2
3 0.882 0.040 20 6773599 intron variant G/A snv 0.31 0.010 1.000 1 2015 2015
dbSNP: rs29001322
rs29001322
MMS19
3 0.882 0.040 10 97462918 non coding transcript exon variant A/C;G snv 0.010 1.000 1 2013 2013