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: rs28360071
rs28360071
XRCC4
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.010 1.000 1 2010 2010
dbSNP: rs28360317
rs28360317
XRCC4
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2010 2010
dbSNP: rs3734091
rs3734091
XRCC4
19 0.689 0.280 5 83204915 missense variant G/T snv 2.3E-02 1.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs3794845
rs3794845
MBP
3 0.882 0.120 18 77002561 intron variant G/C snv 0.12 0.010 1.000 1 2010 2010
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs6869366
rs6869366
XRCC4 ; TMEM167A
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.010 1.000 1 2010 2010
dbSNP: rs703817
rs703817
STAT6
2 0.925 0.120 12 57096045 3 prime UTR variant C/T snv 0.39 0.010 1.000 1 2010 2010
dbSNP: rs7727691
rs7727691
XRCC4 ; TMEM167A
9 0.763 0.200 5 83075876 intron variant C/T snv 0.32 0.010 1.000 1 2010 2010
dbSNP: rs780634396
rs780634396
BCL2
5 0.882 0.120 18 63318618 missense variant T/C snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs869312953
rs869312953
JAK1
5 0.851 0.120 1 64846735 missense variant G/T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057519753
rs1057519753
JAK1
9 0.763 0.120 1 64846664 missense variant C/A snv 0.010 1.000 1 2011 2011
dbSNP: rs1470755915
rs1470755915
RUNX1T1
10 0.776 0.240 8 92005229 missense variant C/A snv 7.0E-06 0.010 < 0.001 1 2011 2011
dbSNP: rs227060
rs227060
ATM ; C11orf65
3 0.882 0.160 11 108334154 intron variant C/T snv 0.27 0.010 1.000 1 2011 2011
dbSNP: rs227092
rs227092
ATM ; C11orf65
1 1.000 0.040 11 108366056 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs2736098
rs2736098
TERT
48 0.600 0.600 5 1293971 synonymous variant C/T snv 0.29 0.22 0.010 1.000 1 2011 2011
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: 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: rs927698341
rs927698341
RUNX1T1
10 0.776 0.240 8 92005280 synonymous variant C/A snv 4.0E-06 2.8E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2012 2012
dbSNP: rs11079041
rs11079041
STAT5B
4 0.882 0.040 17 42262061 intron variant T/A;C snv 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1360698171
rs1360698171
RNASEL
4 0.851 0.080 1 182584103 missense variant T/C snv 0.010 1.000 1 2012 2012
dbSNP: rs17886724
rs17886724
STAT3
2 0.925 0.040 17 42344145 intron variant A/G snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1800566
rs1800566
NQO1
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.010 1.000 1 2012 2012
dbSNP: rs1801280
rs1801280
NAT2
14 0.716 0.440 8 18400344 missense variant T/C snv 0.38 0.39 0.010 1.000 1 2012 2012
dbSNP: rs201820837
rs201820837
ETV6
2 0.925 0.040 12 11869532 missense variant G/A;T snv 2.4E-05; 6.4E-05 0.010 1.000 1 2012 2012