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: rs12770228
rs12770228
MIR1915HG
4 0.882 0.080 10 21494705 non coding transcript exon variant G/A snv 0.24 0.020 1.000 2 2015 2017
dbSNP: rs4968451
rs4968451
BRIP1
13 0.732 0.160 17 61849946 intron variant A/C snv 0.15 0.020 1.000 2 2008 2018
dbSNP: rs1056836
rs1056836
CYP1B1
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.010 1.000 1 2006 2006
dbSNP: rs11012732
rs11012732
MLLT10
5 0.882 0.080 10 21541175 intron variant A/G snv 0.31 0.810 1.000 1 2011 2011
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: rs1243180
rs1243180
MLLT10
7 0.790 0.160 10 21626690 intron variant T/A snv 0.23 0.010 1.000 1 2015 2015
dbSNP: rs1329443726
rs1329443726
CDKN2A
1 1.000 0.080 9 21971097 frameshift variant C/- delins 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: rs25406
rs25406
PCNA ; PCNA-AS1
8 0.807 0.120 20 5118990 intron variant G/A snv 0.41 0.010 1.000 1 2010 2010
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: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2019 2019
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: 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: rs699473
rs699473
SOD3
5 0.827 0.160 4 24795181 intron variant C/T snv 0.54 0.010 1.000 1 2008 2008
dbSNP: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.010 1.000 1 2006 2006
dbSNP: rs7574920
rs7574920
XDH
3 0.882 0.080 2 31362783 intron variant G/C snv 0.42 0.010 1.000 1 2009 2009
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: 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