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: rs6662005
rs6662005
ERO1B
1 1.000 0.120 1 236276616 intron variant G/A snv 0.16 0.700 1.000 1 2017 2017
dbSNP: rs7214041
rs7214041
LINC00511 ; LINC00673
1 1.000 0.120 17 72405335 intron variant C/T snv 0.17 0.700 1.000 1 2018 2018
dbSNP: rs7330800
rs7330800 		1 1.000 0.120 13 63573938 intergenic variant A/C;T snv 0.700 1.000 1 2017 2017
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: rs77038344
rs77038344
TNS4
1 1.000 0.120 17 40487962 intron variant C/T snv 8.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs9554197
rs9554197
PLUT ; LOC105370130
1 1.000 0.120 13 27902841 intron variant C/T snv 0.34 0.700 1.000 1 2015 2015
dbSNP: rs962856
rs962856
LINC01829
1 1.000 0.120 2 67366671 intron variant C/T snv 0.66 0.700 1.000 1 2015 2015
dbSNP: rs981621
rs981621
LDLRAD4
1 1.000 0.120 18 13357201 intron variant A/C;G snv 0.40 0.700 1.000 1 2017 2017
dbSNP: rs121912576
rs121912576
SMAD4
1 1.000 0.120 18 51065539 stop gained G/T snv 0.700 0
dbSNP: rs121912578
rs121912578
SMAD4
1 1.000 0.120 18 51078285 missense variant G/C snv 0.800 0
dbSNP: rs121912579
rs121912579
SMAD4
1 1.000 0.120 18 51078351 stop gained A/T snv 0.700 0
dbSNP: rs121912661
rs121912661
TP53
1 1.000 0.120 17 7676264 missense variant C/A;G snv 0.700 0
dbSNP: rs1555162597
rs1555162597
ACVR1B
1 1.000 0.120 12 51991357 splice acceptor variant ATGAAAAAAAATGTTCCTGGCTACTCTTTTGTATTTCTTTTTGTTTAGTTGTTTTGTTTGAGACAGAGTCTTGCACTCTTGTCCAGGCTGGAGTGCAGTGGCATGATCTCTGCTCACTGCAACCTCTGCCTCCAGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTACAGGTGTTTGCCACCATGCCTGGTTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCGTGTTGGCGGGGCTGGTTTCAAACTACTGATCTCAGGTGATCCGCTTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCGGCCCCTTTTGTGTATTTCTTGTTCCATACTTAGAATTAACTAACTTTCTAAGGAACCTTAGGGGGTAGTGGTATTTACAGAGCACAGTGTAGGTTTTGTCACCGGCTTCTGAGTAATCTTTTCCTGCTGTTGATAACTCAGGTAGATACTTTCTTTTCTCCCAGGAGTCCATGAAGAATATCAGCTGCCATATTACGACTTAGTGCCCTCTGACCCTTCCATTGAGGAAATGCGAAAGGTTGTATGTGATCAGAAGCTGCGTCCCAACATCCCCAACTGGTGGCAGAGTTATGAGGTAAGAAGCTGGCCTCCTGCGGCT/- delins 0.700 0
dbSNP: rs200027650
rs200027650
TCHP
1 1.000 0.120 12 109904025 missense variant G/A snv 2.5E-04 1.4E-04 0.700 0
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: 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: rs9854771
rs9854771
TP63
2 0.925 0.240 3 189790682 intron variant G/A snv 0.34 0.700 1.000 2 2015 2018
dbSNP: rs1034925236
rs1034925236
NR5A2
2 0.925 0.120 1 200048258 missense variant G/C snv 0.010 1.000 1 2011 2011
dbSNP: rs10500715
rs10500715
SBF2
2 0.925 0.120 11 9951515 intron variant T/G snv 0.39 0.700 1.000 1 2014 2014
dbSNP: rs10835188
rs10835188
LIN7C
2 1.000 0.120 11 27501639 intron variant G/T snv 0.68 0.700 1.000 1 2017 2017
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: rs10919791
rs10919791 		2 0.925 0.240 1 199996040 intergenic variant G/A snv 0.22 0.700 1.000 1 2014 2014
dbSNP: rs11085754
rs11085754
SMARCA4
2 0.925 0.120 19 11017920 intron variant A/G snv 0.41 0.010 1.000 1 2015 2015