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: rs1555876140
rs1555876140
SMARCB1
1 22 23793671 frameshift variant -/C delins 0.700 0
dbSNP: rs2736100
rs2736100
TERT
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.800 1.000 5 2009 2014
dbSNP: rs78378222
rs78378222
TP53
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 1 2017 2017
dbSNP: rs498872
rs498872
PHLDB1
10 0.776 0.240 11 118606652 5 prime UTR variant A/G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs35850753
rs35850753
TP53
8 0.807 0.080 17 7675353 5 prime UTR variant C/T snv 1.3E-02 0.700 1.000 1 2015 2015
dbSNP: rs11615
rs11615
ERCC1
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.010 1.000 1 2017 2017
dbSNP: rs2235573
rs2235573
SLC16A8
4 0.882 0.040 22 38081923 synonymous variant G/A snv 0.47 0.46 0.700 1.000 1 2017 2017
dbSNP: rs3751667
rs3751667
LMF1
4 1.000 0.040 16 954554 synonymous variant C/T snv 0.28 0.29 0.700 1.000 1 2017 2017
dbSNP: rs2157719
rs2157719
CDKN2B-AS1
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.700 1.000 2 2011 2015
dbSNP: rs648044
rs648044
ZBTB16 ; LOC101928875
4 0.882 0.040 11 114160077 non coding transcript exon variant A/G;T snv 0.700 1.000 2 2015 2017
dbSNP: rs11166389
rs11166389
SLC35A3 ; RNU6-1318P
2 1.000 0.040 1 100000723 non coding transcript exon variant G/A snv 0.15 0.700 1.000 1 2009 2009
dbSNP: rs4809324
rs4809324
RTEL1 ; RTEL1-TNFRSF6B
7 0.807 0.200 20 63686867 non coding transcript exon variant T/C snv 8.8E-02 0.800 1.000 1 2009 2009
dbSNP: rs8753
rs8753
POLR2A
2 1.000 0.040 17 7514323 non coding transcript exon variant C/T snv 1.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.060 1.000 6 2014 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.060 1.000 6 2014 2019
dbSNP: rs1057519903
rs1057519903
H3-3A
28 0.683 0.080 1 226064434 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs12021720
rs12021720
DBT
3 0.925 0.160 1 100206504 missense variant T/A;C snv 0.92 0.700 1.000 1 2009 2009
dbSNP: rs121913499
rs121913499
IDH1
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1801591
rs1801591
ETFA
4 0.882 0.040 15 76286421 missense variant G/A snv 7.4E-02 6.4E-02 0.700 1.000 1 2015 2015
dbSNP: rs1805389
rs1805389
LIG4
4 0.882 0.080 13 108211261 missense variant G/A;C;T snv 5.7E-02; 4.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs25489
rs25489
XRCC1
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.010 1.000 1 2017 2017
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs63749993
rs63749993
MSH2
8 0.882 0.200 2 47476424 missense variant T/G snv 0.010 1.000 1 2012 2012
dbSNP: rs63750790
rs63750790
MSH2
3 1.000 0.160 2 47476425 missense variant G/A snv 3.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs75061358
rs75061358 		4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 2 2015 2017