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: 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: 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: rs11554290
rs11554290
NRAS
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2005 2016
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2005 2016
dbSNP: rs769177037
rs769177037
SDHC
1 1.000 0.080 1 161328467 missense variant G/A;C;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs867966048
rs867966048
SDHC
2 1.000 0.080 1 161340637 missense variant G/A;C snv 0.010 1.000 1 2005 2005
dbSNP: rs770599902
rs770599902
SDHC
1 1.000 0.080 1 161362382 missense variant G/A snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs33927012
rs33927012
SDHB
1 1.000 0.080 1 17027802 missense variant A/G snv 1.2E-02 9.3E-03 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: rs145633958
rs145633958
RET
1 1.000 0.080 10 43100551 missense variant C/A;T snv 2.7E-03; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs34682185
rs34682185
RET
4 0.851 0.120 10 43106382 missense variant G/A snv 6.3E-04 2.2E-04 0.010 1.000 1 2010 2010
dbSNP: rs773631693
rs773631693
RET
1 1.000 0.080 10 43106436 missense variant C/A snv 4.0E-06 0.010 1.000 1 2018 2018
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: rs747844360
rs747844360
RET
1 1.000 0.080 10 43112853 missense variant G/A snv 1.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs377767394
rs377767394
RET
2 0.925 0.080 10 43113603 missense variant A/C snv 0.010 1.000 1 2004 2004
dbSNP: rs377767395
rs377767395
RET
4 0.882 0.120 10 43113613 missense variant A/G snv 0.010 1.000 1 2008 2008
dbSNP: rs77558292
rs77558292
RET
8 0.776 0.160 10 43113621 missense variant T/A;C;G snv 0.020 1.000 2 2005 2009
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: rs121913313
rs121913313
RET
1 1.000 0.080 10 43113626 inframe deletion TTCCCTGAGGAGGAGAAGTGCTTCTGC/- delins 0.700 1.000 1 2014 2014
dbSNP: rs377767391
rs377767391
RET
5 0.827 0.160 10 43113627 missense variant T/A;C;G snv 0.010 1.000 1 2003 2003
dbSNP: rs377767397
rs377767397
RET
10 0.790 0.280 10 43113628 missense variant G/A;C;T snv 0.020 1.000 2 2003 2015
dbSNP: rs377767398
rs377767398
RET
8 0.807 0.280 10 43113628 missense variant GC/AT;CT;TT mnv 0.020 1.000 2 2003 2015