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: 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: 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: 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: 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: rs730882035
rs730882035
VHL
7 0.807 0.200 3 10149805 missense variant G/A snv 0.010 1.000 1 2006 2006
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: 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: 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: rs1800067
rs1800067
ERCC4
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2010 2010
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: 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: rs662
rs662
PON1
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.010 1.000 1 2010 2010
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: 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: rs202247756
rs202247756
SUFU
2 1.000 0.080 10 102550019 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs267606541
rs267606541
AIP
5 0.827 0.160 11 67487147 stop gained C/T snv 0.010 1.000 1 2012 2012
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: rs121918347
rs121918347
SMO
4 0.851 0.080 7 129210500 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs17655
rs17655
ERCC5 ; BIVM-ERCC5
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.010 1.000 1 2013 2013
dbSNP: rs1799782
rs1799782
XRCC1
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2013 2013
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 2013 2013