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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.020 1.000 2 2017 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2015 2015
dbSNP: rs6505162
rs6505162
NSRP1 ; MIR423 ; MIR3184
25 0.695 0.320 17 30117165 5 prime UTR variant A/C;T snv 0.50; 3.1E-05 0.010 1.000 1 2018 2018
dbSNP: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2014 2014
dbSNP: rs1799937
rs1799937
WT1
3 0.882 0.160 11 32389228 intron variant A/G snv 0.35 0.35 0.010 1.000 1 2005 2005
dbSNP: rs11788747
rs11788747
RECK
6 0.851 0.240 9 36105267 synonymous variant A/C;G snv 4.0E-06; 0.34 0.010 1.000 1 2015 2015
dbSNP: rs174538
rs174538
TMEM258 ; FEN1 ; MIR611
21 0.701 0.440 11 61792609 5 prime UTR variant G/A snv 0.34 0.26 0.010 1.000 1 2018 2018
dbSNP: rs10972727
rs10972727
RECK
4 0.882 0.200 9 36110066 synonymous variant T/A snv 0.32 0.28 0.010 < 0.001 1 2015 2015
dbSNP: rs1801133
rs1801133
MTHFR
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 1.000 1 2018 2018
dbSNP: rs16754
rs16754
WT1
15 0.732 0.240 11 32396399 synonymous variant T/C snv 0.24; 4.0E-06 0.17 0.100 1.000 11 2011 2018
dbSNP: rs2234593
rs2234593
WT1
3 0.882 0.160 11 32392787 non coding transcript exon variant G/T snv 9.3E-02 0.13 0.010 1.000 1 2016 2016
dbSNP: rs2283873
rs2283873
TCN2
1 1.000 0.160 22 30617309 intron variant G/A snv 8.8E-02 0.12 0.800 1.000 1 2012 2012
dbSNP: rs6508
rs6508
WT1-AS
3 0.882 0.160 11 32438918 non coding transcript exon variant G/A snv 8.3E-02 0.16 0.010 1.000 1 2005 2005
dbSNP: rs7290898
rs7290898
TCN2
1 1.000 0.160 22 30615293 splice region variant A/C;G;T snv 7.9E-02; 2.9E-04; 1.1E-03 0.700 1.000 1 2012 2012
dbSNP: rs2234590
rs2234590
WT1
1 1.000 0.160 11 32399987 synonymous variant T/C snv 1.2E-02 4.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs2234584
rs2234584
WT1
5 0.882 0.240 11 32428521 missense variant G/A;T snv 3.9E-04; 2.8E-05 0.700 1.000 4 2004 2017
dbSNP: rs749280481
rs749280481
SLC22A18
3 0.925 0.160 11 2922102 missense variant G/A snv 1.3E-04 1.4E-04 0.010 1.000 1 1998 1998
dbSNP: rs80358972
rs80358972
BRCA2
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 0
dbSNP: rs776031963
rs776031963
CRB2
1 1.000 0.160 9 123371433 missense variant G/A snv 2.0E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs41293497
rs41293497
BRCA2
14 0.724 0.440 13 32340037 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs778634417
rs778634417
TTN ; TTN-AS1
1 1.000 0.160 2 178633467 missense variant C/T snv 1.6E-05 2.1E-05 0.700 0
dbSNP: rs80358785
rs80358785
BRCA2
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 0
dbSNP: rs267607071
rs267607071
SMARCAL1
2 0.925 0.320 2 216475315 missense variant G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs775144154
rs775144154
SLC19A1
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 1.000 1 2015 2015