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: rs935821839
rs935821839
TP73
2 0.925 0.120 1 3727199 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs9564966
rs9564966 		4 0.851 0.120 13 73322084 intergenic variant A/G snv 0.52 0.010 1.000 1 2019 2019
dbSNP: rs281875322
rs281875322
SMAD4
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs11571836
rs11571836
BRCA2
6 0.827 0.200 13 32399302 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2417487
rs2417487
SMC2
1 1.000 0.120 9 104125300 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7675998
rs7675998 		5 0.827 0.360 4 163086668 intergenic variant A/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs10094872
rs10094872
CASC11
4 0.882 0.200 8 127707639 intron variant A/T snv 0.33 0.700 1.000 2 2016 2018
dbSNP: rs1801272
rs1801272
CYP2A6
6 0.807 0.240 19 40848628 missense variant A/T snv 2.0E-02 1.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs2980879
rs2980879 		3 0.925 0.120 8 125469233 intron variant A/T snv 0.69 0.010 < 0.001 1 2014 2014
dbSNP: rs73328514
rs73328514
TNS3
1 1.000 0.120 7 47448971 intron variant A/T snv 0.15 0.700 1.000 1 2018 2018
dbSNP: rs121912579
rs121912579
SMAD4
1 1.000 0.120 18 51078351 stop gained A/T snv 0.700 0
dbSNP: rs397518443
rs397518443
STK11
2 0.925 0.200 19 1222998 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs1555162597
rs1555162597
ACVR1B
1 1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 0.700 0
dbSNP: rs397518442
rs397518442
STK11
1 1.000 0.120 19 1220630 frameshift variant C/- delins 0.700 0
dbSNP: rs17688601
rs17688601
SUGCT ; LOC112267984
1 1.000 0.120 7 40827064 intron variant C/A snv 0.20 0.700 1.000 2 2015 2018
dbSNP: rs11554495
rs11554495
KRT8
19 0.701 0.240 12 52904798 missense variant C/A snv 4.9E-03 5.4E-03 0.010 1.000 1 2006 2006
dbSNP: rs1235228469
rs1235228469
PIK3CB
2 0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs12951345
rs12951345
HNF1B ; LOC105371754
1 1.000 0.120 17 37717865 intron variant C/A snv 0.80 0.700 1.000 1 2019 2019
dbSNP: rs149243735
rs149243735
OGG1
2 0.925 0.120 3 9751076 missense variant C/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1630747
rs1630747
SLC5A3 ; MRPS6
2 0.925 0.120 21 34085692 intron variant C/A snv 0.69 0.010 1.000 1 2019 2019
dbSNP: rs2218400
rs2218400 		1 1.000 0.120 13 63564941 intergenic variant C/A snv 0.34 0.700 1.000 1 2017 2017
dbSNP: rs2255280
rs2255280
C9 ; DAB2
2 0.925 0.120 5 39394887 intron variant C/A snv 0.98 0.700 1.000 1 2011 2011
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: rs4988483
rs4988483
SSTR5 ; SSTR5-AS1
11 0.752 0.240 16 1079010 missense variant C/A snv 3.7E-02 3.7E-02 0.010 1.000 1 2011 2011