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: rs183334241
rs183334241
TSHZ1
2 0.925 0.080 18 75288186 missense variant G/A;C snv 1.6E-04 0.010 1.000 1 2010 2010
dbSNP: rs78081605
rs78081605
TSHZ1
2 0.925 0.080 18 75288051 missense variant G/C snv 8.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs9282655
rs9282655
CDH1
1 1.000 0.080 16 68823545 missense variant T/C snv 0.010 1.000 1 2007 2007
dbSNP: rs1188536960
rs1188536960
SORD
5 0.882 0.120 15 45043305 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs104886028
rs104886028
KRAS
1 1.000 0.080 12 25227308 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs121913240
rs121913240
KRAS
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.710 1.000 1 2014 2014
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs121913233
rs121913233
HRAS ; LRRC56
37 0.627 0.520 11 533874 missense variant T/A;C;G snv 0.020 1.000 2 2014 2017
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1057519855
rs1057519855
HRAS ; LRRC56
11 0.776 0.120 11 533873 missense variant CT/AC;TC mnv 0.010 1.000 1 2014 2014
dbSNP: rs11214077
rs11214077
SDHD ; TIMM8B
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 < 0.001 1 2005 2005
dbSNP: rs750371239
rs750371239
ATM
1 1.000 0.080 11 108252912 missense variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1555166368
rs1555166368
MEN1
6 0.851 0.120 11 64809738 frameshift variant GA/- del 0.700 0
dbSNP: rs74799832
rs74799832
RET
33 0.662 0.280 10 43121968 missense variant T/C snv 4.0E-06 0.800 1.000 26 1996 2018
dbSNP: rs75076352
rs75076352
RET
24 0.689 0.240 10 43114500 missense variant T/A;C;G snv 1.2E-05 0.800 1.000 13 1995 2018
dbSNP: rs79658334
rs79658334
RET
29 0.662 0.360 10 43119548 missense variant G/A;C;T snv 1.2E-04; 4.3E-06 0.800 1.000 12 1997 2019
dbSNP: rs75996173
rs75996173
RET
21 0.716 0.240 10 43114501 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.770 1.000 8 1995 2015
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.070 0.857 7 2009 2017
dbSNP: rs75234356
rs75234356
RET
14 0.716 0.240 10 43120144 missense variant T/G snv 1.2E-05 7.0E-06 0.760 1.000 7 1997 2019
dbSNP: rs75873440
rs75873440
RET
10 0.763 0.200 10 43112173 missense variant G/A;T snv 4.4E-05 0.070 1.000 7 2008 2017
dbSNP: rs77709286
rs77709286
RET
12 0.752 0.160 10 43114502 missense variant C/G snv 4.0E-06 0.730 1.000 6 2002 2017
dbSNP: rs77724903
rs77724903
RET
23 0.672 0.280 10 43118460 missense variant A/G;T snv 4.0E-06; 2.1E-03 0.750 0.833 6 2005 2015
dbSNP: rs77939446
rs77939446
RET
15 0.724 0.120 10 43113622 missense variant G/A;C;T snv 4.0E-06 0.740 1.000 5 1995 2009
dbSNP: rs377767404
rs377767404
RET
11 0.742 0.160 10 43114488 missense variant T/C snv 0.730 1.000 4 1999 2017
dbSNP: rs377767429
rs377767429
RET
7 0.790 0.120 10 43120120 missense variant GC/TT mnv 0.720 1.000 4 2004 2017