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: rs1486134
rs1486134 		1 1.000 0.120 2 67412637 downstream gene variant G/C;T snv 0.700 1.000 2 2015 2018
dbSNP: rs10887710
rs10887710 		2 0.925 0.120 10 80270029 downstream gene variant T/C snv 0.19 0.010 1.000 1 2013 2013
dbSNP: rs1547374
rs1547374
LOC105372815
2 0.925 0.120 21 42358786 downstream gene variant A/G snv 0.32 0.700 1.000 1 2011 2011
dbSNP: rs2762932
rs2762932
CYP24A1
3 0.882 0.200 20 54151852 downstream gene variant T/C snv 0.17 0.010 1.000 1 2015 2015
dbSNP: rs9581943
rs9581943
PDX1
1 1.000 0.120 13 27919860 upstream gene variant G/A snv 0.31 0.700 1.000 3 2014 2018
dbSNP: rs2816938
rs2816938 		2 1.000 0.120 1 200016240 upstream gene variant T/A snv 0.37 0.700 1.000 2 2016 2018
dbSNP: rs35226131
rs35226131
TERT
2 1.000 0.120 5 1295258 upstream gene variant C/T snv 2.6E-02 0.700 1.000 2 2016 2018
dbSNP: rs10741657
rs10741657
CYP2R1
34 0.637 0.520 11 14893332 upstream gene variant A/G snv 0.65 0.010 1.000 1 2013 2013
dbSNP: rs1182933
rs1182933
C12orf43
3 1.000 0.120 12 121016819 upstream gene variant C/T snv 0.26 0.700 1.000 1 2018 2018
dbSNP: rs1552462
rs1552462 		2 0.925 0.120 11 7235910 upstream gene variant C/T snv 2.7E-02 0.010 1.000 1 2013 2013
dbSNP: rs36115365
rs36115365 		7 0.807 0.160 5 1313127 upstream gene variant G/A;C;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2228570
rs2228570
VDR
99 0.521 0.760 12 47879112 start lost A/C;G;T snv 0.63 0.010 1.000 1 2015 2015
dbSNP: rs31490
rs31490
CLPTM1L
8 0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs1555162597
rs1555162597
ACVR1B
1 1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 0.700 0
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 0.500 2 2011 2011
dbSNP: rs1322648460
rs1322648460
CD44 ; LOC100507144
9 0.776 0.320 11 35139332 frameshift variant G/- delins 0.010 1.000 1 2011 2011
dbSNP: rs587778883
rs587778883
MLH1
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
dbSNP: rs387906389
rs387906389
ACVR1B
1 1.000 0.120 12 51986840 frameshift variant GATGA/- del 0.700 0
dbSNP: rs397518442
rs397518442
STK11
1 1.000 0.120 19 1220630 frameshift variant C/- delins 0.700 0
dbSNP: rs397518443
rs397518443
STK11
2 0.925 0.200 19 1222998 frameshift variant AA/-;A delins 0.700 0
dbSNP: rs80338965
rs80338965
SMAD4
5 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0
dbSNP: rs1053004
rs1053004
STAT3
11 0.776 0.280 17 42314074 3 prime UTR variant G/A snv 0.48 0.010 1.000 1 2016 2016
dbSNP: rs1053005
rs1053005
STAT3
10 0.763 0.360 17 42313892 3 prime UTR variant T/C snv 0.25 0.010 1.000 1 2016 2016
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: rs1318
rs1318
PITPNC1 ; LOC101928045
2 0.925 0.120 17 67695266 3 prime UTR variant A/G snv 0.30 0.010 1.000 1 2015 2015