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: 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: 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: rs10208273
rs10208273 		3 0.882 0.040 2 6383862 intergenic variant A/G snv 0.30 0.010 1.000 1 2014 2014
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: rs17206779
rs17206779
ADAMTS6
3 0.882 0.040 5 65151950 splice region variant C/G;T snv 0.48 0.010 1.000 1 2014 2014
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
dbSNP: rs3787547
rs3787547
BCAS1
3 0.882 0.040 20 54067899 intron variant G/A snv 0.36 0.010 1.000 1 2018 2018
dbSNP: rs58834075
rs58834075
MIR656
3 0.882 0.040 14 101066756 non coding transcript exon variant C/G;T snv 4.0E-06; 4.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs756673959
rs756673959
MDM2
3 0.882 0.040 12 68828867 stop lost T/G snv 0.010 1.000 1 2019 2019
dbSNP: rs758300152
rs758300152
FSCB
3 0.882 0.040 14 44504889 missense variant T/C;G snv 1.6E-05; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs7591996
rs7591996 		3 0.882 0.040 2 6321289 intron variant A/C snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs764191858
rs764191858
PDLIM3
3 0.882 0.040 4 185502359 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs770771727
rs770771727
UTRN
3 0.882 0.040 6 144751941 missense variant A/C;G snv 4.5E-05; 2.5E-05 0.010 1.000 1 2019 2019