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: rs2040639
rs2040639
XRCC2
2 1.000 0.080 7 152678103 upstream gene variant T/C;G snv 0.020 1.000 2 2008 2015
dbSNP: rs10090787
rs10090787
SNTB1 ; LOC107986874
3 1.000 0.080 8 120798309 intron variant C/T snv 0.34 0.710 1.000 1 2017 2017
dbSNP: rs1045487
rs1045487
CASP8
2 1.000 0.080 2 201284973 synonymous variant G/A snv 9.5E-02 0.10 0.010 1.000 1 2017 2017
dbSNP: rs11130760
rs11130760
FHIT
2 1.000 0.080 3 60210809 intron variant G/T snv 0.12 0.710 1.000 1 2017 2017
dbSNP: rs11545028
rs11545028
WWOX
3 1.000 0.080 16 78099774 5 prime UTR variant C/T snv 0.30 0.28 0.010 1.000 1 2016 2016
dbSNP: rs1473418
rs1473418
BCL2
2 1.000 0.080 18 63319316 5 prime UTR variant C/G snv 0.98 0.010 1.000 1 2015 2015
dbSNP: rs17071138
rs17071138
SERPINB5
2 1.000 0.080 18 63476675 upstream gene variant T/C snv 2.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs1950252
rs1950252
BCL2L2 ; BCL2L2-PABPN1
2 1.000 0.080 14 23309489 3 prime UTR variant A/G snv 0.93 0.010 1.000 1 2015 2015
dbSNP: rs2046463
rs2046463
LOC105377555
3 1.000 0.080 4 176681548 intron variant G/A;C snv 0.010 1.000 1 2013 2013
dbSNP: rs2292566
rs2292566
EPHX1
2 1.000 0.080 1 225831952 synonymous variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs3092904
rs3092904
RB1
2 1.000 0.080 13 48477345 intron variant T/A snv 0.24 0.20 0.010 1.000 1 2014 2014
dbSNP: rs33438
rs33438
ZNF536
2 1.000 0.080 19 30454165 intron variant G/A snv 0.50 0.010 1.000 1 2020 2020
dbSNP: rs34329
rs34329
CDKN1B
2 1.000 0.080 12 12720299 intron variant G/C snv 0.61 0.010 1.000 1 2014 2014
dbSNP: rs3757769
rs3757769
SND1
2 1.000 0.080 7 127901009 intron variant A/G snv 9.7E-02 0.010 1.000 1 2020 2020
dbSNP: rs563691424
rs563691424
WNK1
2 1.000 0.080 12 753860 missense variant C/T snv 6.2E-05 2.1E-05 0.010 1.000 1 2015 2015
dbSNP: rs587778718
rs587778718
TP53
2 1.000 0.080 17 7674959 missense variant G/A;C;T snv 4.0E-06; 1.2E-05; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs6021247
rs6021247
NFATC2
7 1.000 0.080 20 51492442 intron variant G/A snv 0.65 0.010 1.000 1 2020 2020
dbSNP: rs6547741
rs6547741
GPN1
7 0.807 0.080 2 27633057 intron variant G/A snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs7085532
rs7085532
TCF7L2
2 1.000 0.080 10 113099704 intron variant G/A snv 0.72 0.010 1.000 1 2020 2020
dbSNP: rs771266873
rs771266873
GORASP1
2 1.000 0.080 3 39098828 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs7778413
rs7778413
SND1
2 1.000 0.080 7 127717662 intron variant T/C snv 0.23 0.010 1.000 1 2020 2020
dbSNP: rs8089104
rs8089104
SERPINB5
2 1.000 0.080 18 63480916 intron variant C/T snv 0.50 0.010 1.000 1 2017 2017
dbSNP: rs9849237
rs9849237
CNTN4
3 1.000 0.080 3 2633505 intron variant C/T snv 0.25 0.710 1.000 1 2017 2017
dbSNP: rs9862
rs9862
TIMP3 ; SYN3
3 1.000 0.080 22 32857293 missense variant T/A;C snv 4.0E-06; 0.55 0.010 1.000 1 2015 2015
dbSNP: rs1335022
rs1335022
GRIK2
1 1.000 0.080 6 102018522 intron variant C/T snv 0.27 0.700 0