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: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.700 0
dbSNP: rs751942421
rs751942421
RASSF7 ; LMNTD2
1 1.000 0.080 11 562702 missense variant C/T snv 1.4E-05 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs770140945
rs770140945
CYP1A1
4 0.882 0.200 15 74720665 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs747364414
rs747364414
BRCA1
3 0.882 0.080 17 43082496 missense variant C/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs140510218
rs140510218
CTCF
1 1.000 0.080 16 67621458 synonymous variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2004 2004
dbSNP: rs767915085
rs767915085
SULT1A1
3 0.882 0.080 16 28606122 missense variant T/C snv 8.0E-06 7.1E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs530464947
rs530464947
BRCA1
1 1.000 0.080 17 43092137 missense variant T/C snv 1.6E-05 4.2E-05 0.010 1.000 1 2006 2006
dbSNP: rs28904921
rs28904921
ATM ; C11orf65
12 0.763 0.320 11 108329202 missense variant T/G snv 4.0E-05 6.3E-05 0.010 1.000 1 2004 2004
dbSNP: rs753904217
rs753904217
GSTM1 ; GSTM2
1 1.000 0.080 1 109690557 missense variant G/A snv 1.9E-04 6.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs143282828
rs143282828
UIMC1
1 1.000 0.080 5 176968697 missense variant A/G snv 7.3E-04 7.3E-04 0.010 1.000 1 2009 2009
dbSNP: rs121917739
rs121917739
RAD51
4 0.882 0.080 15 40718818 missense variant G/A snv 3.7E-04 1.7E-03 0.010 1.000 1 2006 2006
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs34301344
rs34301344
ARL11
22 0.689 0.400 13 49630893 stop gained G/A snv 9.7E-03 7.9E-03 0.040 1.000 4 2006 2006
dbSNP: rs28363284
rs28363284
RAD51D ; RAD51L3-RFFL
5 0.882 0.080 17 35103294 missense variant T/C snv 9.7E-03 1.1E-02 0.020 0.500 2 2004 2009
dbSNP: rs34434221
rs34434221
AKAP13
3 0.882 0.080 15 85579644 missense variant A/C snv 2.2E-02 2.2E-02 0.020 1.000 2 2006 2007
dbSNP: rs13010627
rs13010627
CASP10
10 0.807 0.280 2 201209375 missense variant G/A snv 4.2E-02 4.3E-02 0.010 1.000 1 2006 2006
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.010 < 0.001 1 2012 2012
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2241268
rs2241268
AKAP13
1 1.000 0.080 15 85735078 missense variant G/A snv 0.22 0.19 0.010 1.000 1 2006 2006
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2006 2006
dbSNP: rs16940
rs16940
BRCA1
5 0.882 0.080 17 43093220 synonymous variant A/G snv 0.35 0.29 0.010 1.000 1 2014 2014
dbSNP: rs1060915
rs1060915
BRCA1
1 1.000 0.080 17 43082453 synonymous variant A/G snv 0.35 0.30 0.010 1.000 1 2014 2014
dbSNP: rs1042028
rs1042028
SULT1A1
30 0.658 0.440 16 28606193 missense variant C/T snv 0.22 0.30 0.010 < 0.001 1 2010 2010
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 2007 2007
dbSNP: rs12516
rs12516
BRCA1
4 0.851 0.160 17 43044391 3 prime UTR variant G/A snv 0.34 0.31 0.010 1.000 1 2014 2014