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: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.020 1.000 2 2009 2016
dbSNP: rs121434592
rs121434592
AKT1
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.020 0.500 2 2013 2020
dbSNP: rs1035938
rs1035938
BICRA
8 0.776 0.120 19 47680514 missense variant C/G;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2016 2016
dbSNP: rs121918347
rs121918347
SMO
4 0.851 0.080 7 129210500 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs1329443726
rs1329443726
CDKN2A
1 1.000 0.080 9 21971097 frameshift variant C/- delins 0.010 1.000 1 2001 2001
dbSNP: rs1475218156
rs1475218156
CDKN2B ; CDKN2B-AS1
1 1.000 0.080 9 22006096 missense variant C/G;T snv 4.2E-06; 8.4E-06 0.010 1.000 1 2001 2001
dbSNP: rs202247756
rs202247756
SUFU
2 1.000 0.080 10 102550019 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2235544
rs2235544
DIO1
14 0.742 0.240 1 53909897 intron variant C/A;T snv 0.53; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs267606541
rs267606541
AIP
5 0.827 0.160 11 67487147 stop gained C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs2686876
rs2686876 		3 0.882 0.080 11 258909 intergenic variant T/A;C snv 0.710 1.000 1 2018 2018
dbSNP: rs3219466
rs3219466
MUTYH ; TOE1
4 0.851 0.080 1 45340381 5 prime UTR variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs3731249
rs3731249
CDKN2A
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2019 2019
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2017 2017
dbSNP: rs603965
rs603965
CCND1
14 0.732 0.440 11 69648142 splice region variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs768803947
rs768803947
TP53
3 0.882 0.080 17 7670624 missense variant C/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2001 2001
dbSNP: rs854560
rs854560
PON1
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs9420907
rs9420907
STN1
7 0.790 0.320 10 103916707 intron variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs121434259
rs121434259
NF2
2 0.925 0.160 22 29636805 stop gained C/T snv 0.700 0
dbSNP: rs1568234664
rs1568234664
DNMT1
1 1.000 0.080 19 10154774 splice acceptor variant C/A snv 0.700 0
dbSNP: rs587776563
rs587776563
NF2
1 1.000 0.080 22 29668440 frameshift variant A/- delins 0.700 0
dbSNP: rs1217691063
rs1217691063
MTHFR
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2006 2013
dbSNP: rs150766139
rs150766139
NTHL1 ; TSC2
13 0.742 0.320 16 2046238 stop gained G/A snv 1.4E-03 1.4E-03 0.010 1.000 1 2019 2019