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: rs763098116
rs763098116
TP53
3 0.925 0.040 17 7673790 missense variant C/A;T snv 4.0E-06 0.700 0
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
dbSNP: rs1553260624
rs1553260624
H3-3A
14 0.763 0.080 1 226064454 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs171140
rs171140
ERCC2
6 0.807 0.080 19 45361744 non coding transcript exon variant C/A snv 0.58 0.64 0.010 1.000 1 2018 2018
dbSNP: rs2275008
rs2275008
OSGEP
5 0.827 0.080 14 20448090 non coding transcript exon variant T/A;C snv 4.0E-06; 0.26 0.010 1.000 1 2017 2017
dbSNP: rs3178250
rs3178250
BMP2
5 0.827 0.080 20 6779554 3 prime UTR variant T/C snv 0.21 0.010 1.000 1 2015 2015
dbSNP: rs367597251
rs367597251
MDM2
10 0.807 0.080 12 68839587 missense variant A/G snv 1.5E-04 5.1E-04 0.010 1.000 1 2019 2019
dbSNP: rs368933511
rs368933511
SQSTM1 ; MRNIP
5 0.851 0.080 5 179836485 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2009 2009
dbSNP: rs3745406
rs3745406
PRKCG
6 0.851 0.080 19 53891711 missense variant T/A;C snv 4.0E-06; 0.41 0.010 1.000 1 2015 2015
dbSNP: rs6973569
rs6973569
NPSR1-AS1
5 0.851 0.080 7 34583412 intron variant G/A snv 4.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs8064946
rs8064946
TP53 ; WRAP53
4 0.851 0.080 17 7685993 non coding transcript exon variant G/C snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs9895829
rs9895829
TP53
6 0.807 0.080 17 7675361 5 prime UTR variant A/G snv 7.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs17883862
rs17883862
CHEK2
3 0.882 0.080 22 28734468 missense variant G/A;C;T snv 9.1E-04; 1.2E-05 0.700 0
dbSNP: rs863223301
rs863223301
TP53
2 0.925 0.080 17 7675130 frameshift variant -/CCATGGC delins 0.700 0
dbSNP: rs1800541
rs1800541
EDN1
5 0.851 0.120 6 12288986 upstream gene variant T/G snv 0.24 0.020 1.000 2 2013 2014
dbSNP: rs1056629
rs1056629
MPHOSPH6
6 0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs1060501205
rs1060501205
TP53
5 0.827 0.120 17 7673749 missense variant TG/GT mnv 0.010 1.000 1 2008 2008
dbSNP: rs11866002
rs11866002
CNOT1
4 0.851 0.120 16 58553833 synonymous variant C/T snv 0.35 0.39 0.010 1.000 1 2015 2015
dbSNP: rs1215600806
rs1215600806
ALPL
4 0.851 0.120 1 21564100 missense variant T/C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs1416572796
rs1416572796
ALPL
4 0.851 0.120 1 21568170 missense variant G/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs143358506
rs143358506
ALPL
4 0.851 0.120 1 21560674 missense variant T/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2019 2019