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: 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: 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: 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: rs2070699
rs2070699
EDN1
14 0.752 0.080 6 12292539 intron variant G/C;T snv 0.45 0.020 0.500 2 2013 2014
dbSNP: rs10019009
rs10019009
DMP1 ; LOC105377323
4 0.851 0.080 4 87661983 missense variant A/G;T snv 4.0E-06; 0.29 0.010 1.000 1 2016 2016
dbSNP: rs1233296947
rs1233296947
CTNNB1
5 0.851 0.080 3 41225746 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12602273
rs12602273
TP53
4 0.851 0.080 17 7679695 intron variant C/G snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs12894467
rs12894467
MIR300 ; MIR1185-1
6 0.807 0.080 14 101041390 non coding transcript exon variant C/T snv 0.51 0.50 0.010 1.000 1 2018 2018