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: rs12255372
rs12255372
TCF7L2
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs2420946
rs2420946
FGFR2
4 0.851 0.160 10 121591810 intron variant T/C snv 0.56 0.010 1.000 1 2012 2012
dbSNP: rs2981582
rs2981582
FGFR2
21 0.695 0.360 10 121592803 intron variant A/G snv 0.58 0.010 1.000 1 2012 2012
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: rs1695
rs1695
GSTP1
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2008 2008
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: rs371077728
rs371077728
MRE11 ; MIR548L
6 0.827 0.320 11 94467821 stop gained G/A;C;T snv 5.2E-05; 4.0E-06; 7.2E-05 0.010 1.000 1 2017 2017
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: rs756522395
rs756522395
ATM
1 1.000 0.080 11 108257484 missense variant C/G;T snv 0.010 < 0.001 1 2008 2008
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: 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: rs755100942
rs755100942
ARL11
17 0.724 0.320 13 49630894 stop gained G/A snv 4.2E-06 0.040 1.000 4 2006 2006
dbSNP: rs3803185
rs3803185
ARL11
19 0.708 0.320 13 49630889 missense variant T/C;G snv 0.39 0.030 1.000 3 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: rs147120792
rs147120792
ARL11
6 0.851 0.200 13 49630839 missense variant C/A;T snv 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs41293475
rs41293475
BRCA2
3 0.882 0.080 13 32332629 missense variant C/G;T snv 7.6E-04 0.010 1.000 1 2005 2005
dbSNP: rs80358505
rs80358505
BRCA2
1 1.000 0.080 13 32319249 missense variant A/G;T snv 0.010 1.000 1 2004 2004
dbSNP: rs144567652
rs144567652
FANCM
8 0.776 0.200 14 45198718 stop gained C/A;T snv 4.0E-06; 1.0E-03 0.020 1.000 2 2015 2017
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: 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: 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: 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: rs4843075
rs4843075
AKAP13
1 1.000 0.080 15 85581324 missense variant G/A;C snv 0.61; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs56343424
rs56343424
CYP1A1
1 1.000 0.080 15 74720496 missense variant C/A;T snv 2.1E-03; 3.3E-05 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