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: 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: rs2086452
rs2086452
ADAMTS17
1 1.000 0.040 15 100188458 intron variant G/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2230392
rs2230392
ITGA3
4 0.882 0.040 17 50078061 missense variant G/A snv 0.14 9.0E-02 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: rs2285524
rs2285524
ITGA3
4 0.882 0.040 17 50073989 synonymous variant T/C snv 0.21 0.24 0.010 1.000 1 2014 2014
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: rs4730222
rs4730222
HBP1
4 0.851 0.040 7 107169848 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2019 2019
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: 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: rs764191858
rs764191858
PDLIM3
3 0.882 0.040 4 185502359 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs7646409
rs7646409
PIK3CA
4 0.882 0.040 3 179182405 intron variant T/C snv 0.26 0.010 1.000 1 2013 2013
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
dbSNP: rs779591039
rs779591039
SLPI ; LOC105372630
3 0.882 0.040 20 45253712 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs8103851
rs8103851
PRKCG
5 0.851 0.040 19 53894400 intron variant C/G snv 0.44 0.010 1.000 1 2014 2014
dbSNP: rs8103992
rs8103992 		3 0.882 0.040 19 19554834 regulatory region variant A/C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs876660254
rs876660254
TP53
4 0.882 0.040 17 7674963 missense variant G/T snv 0.010 1.000 1 1999 1999
dbSNP: rs9866361
rs9866361
PIK3CA
3 0.882 0.040 3 179190061 intron variant G/A snv 0.24 0.010 1.000 1 2013 2013
dbSNP: rs998074
rs998074
IGF2R
3 0.882 0.040 6 160047351 intron variant T/A;C snv 0.53 0.010 1.000 1 2007 2007
dbSNP: rs998075
rs998075
IGF2R
3 0.882 0.040 6 160047246 synonymous variant A/G snv 0.53 0.54 0.010 1.000 1 2007 2007
dbSNP: rs137853008
rs137853008
CHEK2
1 1.000 0.040 22 28734673 missense variant C/A snv 0.800 0