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: rs121913227
rs121913227
BRAF
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2014 2016
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs765669662
rs765669662
CA2 ; CA3-AS1
2 0.925 0.040 8 85465317 missense variant G/A;T snv 2.0E-05; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs2308950
rs2308950
CASP9
3 0.882 0.040 1 15507011 missense variant C/G;T snv 4.0E-06; 1.1E-02 0.010 1.000 1 2018 2018
dbSNP: rs387906666
rs387906666
CBL
5 0.827 0.080 11 119278182 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs3116496
rs3116496
CD28
11 0.776 0.160 2 203729789 intron variant T/C snv 0.15 0.14 0.010 1.000 1 2019 2019
dbSNP: rs11547328
rs11547328
CDK4
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs771138120
rs771138120
CDKN2A
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2003 2003
dbSNP: rs6413463
rs6413463
CDKN2A
1 1.000 0.040 9 21970990 missense variant A/G;T snv 2.9E-05; 3.0E-04 0.700 0
dbSNP: rs564398
rs564398
CDKN2B-AS1
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.010 1.000 1 2011 2011
dbSNP: rs754944509
rs754944509
CNTNAP1
4 0.851 0.080 17 42690793 missense variant C/T snv 4.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs796065343
rs796065343
CSF3R
12 0.776 0.080 1 36467833 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1258094111
rs1258094111
CTSG
2 0.925 0.040 14 24575388 missense variant C/T snv 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs1801157
rs1801157
CXCL12
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2016 2016
dbSNP: rs2228014
rs2228014
CXCR4
14 0.752 0.240 2 136115514 synonymous variant G/A snv 4.6E-02 3.5E-02 0.010 1.000 1 2016 2016
dbSNP: rs3745274
rs3745274
CYP2B6
30 0.672 0.480 19 41006936 missense variant G/A;T snv 4.0E-06; 0.27 0.010 < 0.001 1 2011 2011
dbSNP: rs869312828
rs869312828
DDX41 ; DOK3
7 0.807 0.080 5 177512369 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs1408538785
rs1408538785
DNAH8
6 0.827 0.080 6 38761760 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs147001633
rs147001633
DNMT3A
15 0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 0.010 1.000 1 2016 2016
dbSNP: rs387906553
rs387906553
ELANE
6 0.827 0.120 19 853022 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2002 2002
dbSNP: rs13181
rs13181
ERCC2 ; KLC3
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2015 2015
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2015 2015
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.010 1.000 1 2010 2010
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2010 2010