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: rs1356874787
rs1356874787
2 20 3889103 start lost G/A snv 6.7E-06 0.010 1.000 1 2017 2017
dbSNP: rs1373219981
rs1373219981
2 1 17011736 start lost C/A snv 1.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs1405183655
rs1405183655
2 16 74719132 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs201573646
rs201573646
2 6 43640526 missense variant G/A snv 1.0E-04 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs369447743
rs369447743
2 2 171434679 synonymous variant C/T snv 7.4E-04 7.7E-05 0.010 1.000 1 2017 2017
dbSNP: rs746673818
rs746673818
2 17 42562625 start lost G/A snv 0.010 1.000 1 2017 2017
dbSNP: rs757725417
rs757725417
3 2 86144399 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs760361706
rs760361706
4 22 46235326 missense variant G/C snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs764492939
rs764492939
2 17 42562414 start lost G/A snv 1.6E-05 2.1E-05 0.010 1.000 1 2017 2017
dbSNP: rs1057518805
rs1057518805
2 1 202596928 inframe deletion ATAGTC/- delins 0.700 0
dbSNP: rs1057518962
rs1057518962
DMD
6 X 32573812 stop gained C/A;G;T snv 5.5E-06; 5.5E-06 0.700 0
dbSNP: rs1555358382
rs1555358382
6 14 54844115 stop gained G/A snv 0.700 0
dbSNP: rs1555420508
rs1555420508
3 15 42387891 splice region variant G/A snv 0.700 0
dbSNP: rs28933979
rs28933979
TTR
70 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.010 1.000 1 2005 2005
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.020 1.000 2 2004 2011
dbSNP: rs121918459
rs121918459
47 0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1569548274
rs1569548274
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs867410737
rs867410737
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 0
dbSNP: rs1805123
rs1805123
18 0.724 0.280 7 150948446 missense variant T/A;C;G snv 1.3E-05; 0.18; 8.4E-06 0.010 1.000 1 2017 2017
dbSNP: rs767910122
rs767910122
17 0.724 0.280 7 150948446 frameshift variant -/GTCCG ins 4.4E-05 0.010 1.000 1 2017 2017
dbSNP: rs794728448
rs794728448
17 0.724 0.280 7 150948445 frameshift variant CT/G delins 0.010 1.000 1 2017 2017
dbSNP: rs121912443
rs121912443
15 0.732 0.160 21 31663857 missense variant A/G snv 0.020 1.000 2 1996 2007
dbSNP: rs80356616
rs80356616
19 0.732 0.360 11 17387917 missense variant C/T snv 0.010 1.000 1 2006 2006
dbSNP: rs387906789
rs387906789
VCP
14 0.742 0.200 9 35065352 missense variant G/A;C snv 4.0E-06 0.020 1.000 2 2009 2013