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: rs1178552124
rs1178552124
KLC1 ; XRCC3 ; LOC112268131
1 1.000 0.040 14 103703253 synonymous variant G/A snv 0.010 1.000 1 2012 2012
dbSNP: rs1799929
rs1799929
NAT2
11 0.776 0.240 8 18400484 synonymous variant C/T snv 0.36 0.36 0.010 1.000 1 2012 2012
dbSNP: rs1799931
rs1799931
NAT2
14 0.742 0.320 8 18400860 missense variant G/A snv 5.8E-02 3.9E-02 0.010 1.000 1 2012 2012
dbSNP: rs1800449
rs1800449
LOX
33 0.641 0.400 5 122077513 missense variant C/A;T snv 4.0E-06; 0.17 0.010 1.000 1 2009 2009
dbSNP: rs763281108
rs763281108
XRCC1
1 1.000 0.040 19 43553617 missense variant G/A snv 4.1E-06 0.010 1.000 1 2012 2012
dbSNP: rs764147069
rs764147069
BRD2
1 1.000 0.040 6 32977458 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs781192921
rs781192921
OSTF1
1 1.000 0.040 9 75137599 missense variant A/G snv 1.2E-05 0.010 1.000 1 2009 2009
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.010 1.000 1 2012 2012