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: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.923 39 2002 2019
dbSNP: rs1458511470
rs1458511470
CASP8
2 2 201272639 frameshift variant -/C delins 0.010 1.000 1 2018 2018
dbSNP: rs17524488
rs17524488
SPP1
4 0.925 0.040 4 87975555 non coding transcript exon variant -/G delins 0.010 1.000 1 2015 2015
dbSNP: rs200182588
rs200182588
SMC2 ; SMC2-AS1
6 0.827 0.160 9 104094409 5 prime UTR variant -/GC ins 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs11267092
rs11267092
F2R
2 5 76715788 intron variant -/GGCCGCGGGAAGC;GGCCGCGGGAAGCGGCCGCGGGAAGC delins 0.010 1.000 1 2013 2013
dbSNP: rs10680577
rs10680577
EGLN2 ; RAB4B-EGLN2
10 0.776 0.160 19 40798690 intron variant -/TACT delins 0.010 1.000 1 2019 2019
dbSNP: rs866419664
rs866419664
TP53
5 0.882 0.040 17 7673821 frameshift variant -/TCCCA delins 0.010 1.000 1 2012 2012
dbSNP: rs3830675
rs3830675
PTEN
3 1.000 0.040 10 87931195 intron variant -/TCTTA delins 0.030 1.000 3 2014 2016
dbSNP: rs3783553
rs3783553
IL1A
26 0.667 0.480 2 112774138 3 prime UTR variant -/TGAA delins 0.020 1.000 2 2013 2019
dbSNP: rs17880560
rs17880560
TP53
2 17 7668169 intron variant -/TGGCCG delins 0.010 1.000 1 2014 2014
dbSNP: rs71305152
rs71305152
ZFPM2
5 0.882 0.040 8 105437494 intron variant -/TTTTCT delins 0.43 0.010 1.000 1 2015 2015
dbSNP: rs397509239
rs397509239
BRCA1
3 1.000 17 43057122 frameshift variant A/- del 0.010 1.000 1 2013 2013
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.060 1.000 6 2002 2017
dbSNP: rs61764370
rs61764370
KRAS
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.050 0.600 5 2011 2017
dbSNP: rs712
rs712
KRAS
24 0.677 0.360 12 25209618 3 prime UTR variant A/C snv 0.46 0.040 1.000 4 2015 2019
dbSNP: rs1566734
rs1566734
PTPRJ
10 0.807 0.120 11 48123823 missense variant A/C snv 0.17 0.15 0.030 0.333 3 2008 2019
dbSNP: rs1042667
rs1042667
SOX9 ; SOX9-AS1
3 1.000 0.040 17 72124410 3 prime UTR variant A/C snv 0.41 0.36 0.010 1.000 1 2016 2016
dbSNP: rs1056628
rs1056628
MMP9 ; SLC12A5-AS1
2 20 46016407 3 prime UTR variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519697
rs1057519697
ALK
12 0.776 0.120 2 29220830 missense variant A/C snv 0.010 1.000 1 2018 2018
dbSNP: rs11079867
rs11079867 		1 17 49277423 intron variant A/C snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs1190488467
rs1190488467
PTPN13
2 4 86701433 missense variant A/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs1204382931
rs1204382931
CYP1B1 ; CYP1B1-AS1
10 0.790 0.160 2 38075270 missense variant A/C snv 4.3E-06 0.010 1.000 1 2015 2015
dbSNP: rs1333048
rs1333048
CDKN2B-AS1
24 0.683 0.320 9 22125348 intron variant A/C snv 0.44 0.700 1.000 1 2016 2016
dbSNP: rs1395602
rs1395602
UBN1
1 16 4861238 intron variant A/C snv 0.55 0.700 1.000 1 2017 2017
dbSNP: rs15561
rs15561
NAT1
1 8 18223142 3 prime UTR variant A/C snv 0.64 0.010 1.000 1 2017 2017