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: rs1487151044
rs1487151044
ZEB1
5 0.851 0.080 10 31510817 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs754854286
rs754854286
ZEB1
3 1.000 0.120 10 31520432 missense variant G/C snv 0.010 1.000 1 2019 2019
dbSNP: rs762471803
rs762471803
YAP1
6 0.925 0.040 11 102114201 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs3213245
rs3213245
XRCC1 ; PINLYP
13 0.742 0.240 19 43575535 5 prime UTR variant G/A snv 0.65 0.60 0.010 1.000 1 2018 2018
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.020 1.000 2 2015 2018
dbSNP: rs1317052311
rs1317052311
VEGFD ; PIR-FIGF
1 X 15358134 missense variant C/A snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs1212415280
rs1212415280
VEGFA
2 6 43771130 missense variant G/T snv 2.1E-05 0.010 1.000 1 2012 2012
dbSNP: rs1284410244
rs1284410244
VEGFA
4 0.925 0.040 6 43778482 missense variant A/G snv 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs1570360
rs1570360
VEGFA
38 0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 0.010 1.000 1 2017 2017
dbSNP: rs699947
rs699947
VEGFA
67 0.570 0.680 6 43768652 upstream gene variant A/C;T snv 0.010 1.000 1 2012 2012
dbSNP: rs1196644309
rs1196644309
TXNIP
3 1.000 0.080 1 145995155 missense variant G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs762846821
rs762846821
TP53
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.040 1.000 4 2010 2015
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2010 2014
dbSNP: rs121912664
rs121912664
TP53
44 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.020 1.000 2 2001 2011
dbSNP: rs28934576
rs28934576
TP53
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.020 1.000 2 2007 2017
dbSNP: rs878854066
rs878854066
TP53
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 1.000 2 2010 2014
dbSNP: rs1057519975
rs1057519975
TP53
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs1131691036
rs1131691036
TP53
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 1.000 1 2019 2019
dbSNP: rs121912651
rs121912651
TP53
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800372
rs1800372
TP53
15 0.752 0.240 17 7674892 synonymous variant T/A;C snv 1.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs730882002
rs730882002
TP53
6 0.925 0.040 17 7674956 missense variant T/C snv 0.010 1.000 1 2017 2017
dbSNP: rs760043106
rs760043106
TP53
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.010 < 0.001 1 2016 2016
dbSNP: rs867114783
rs867114783
TP53
6 17 7675109 missense variant T/C snv 0.010 1.000 1 1999 1999
dbSNP: rs115160714
rs115160714
TOPBP1
9 0.807 0.200 3 133601021 3 prime UTR variant G/A snv 5.8E-03 0.010 1.000 1 2016 2016