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: rs121917905
rs121917905
1 1.000 0.160 10 49471085 missense variant A/C;G snv 0.800 1.000 1 2010 2010
dbSNP: rs121917902
rs121917902
7 0.790 0.440 10 49524073 stop gained G/A snv 0.700 1.000 3 2008 2011
dbSNP: rs1198241866
rs1198241866
3 0.882 0.400 10 49524421 stop gained T/A snv 4.0E-06 0.700 1.000 2 2002 2010
dbSNP: rs185142838
rs185142838
5 0.851 0.400 10 49461473 stop gained G/A snv 1.4E-04 9.1E-05 0.700 1.000 2 2010 2016
dbSNP: rs875989810
rs875989810
4 0.851 0.400 10 49528426 stop gained C/A snv 0.700 1.000 2 2015 2017
dbSNP: rs1287286877
rs1287286877
3 0.882 0.400 10 49470367 frameshift variant -/TC delins 4.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs1554787509
rs1554787509
3 0.882 0.400 10 49474065 stop gained G/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554793270
rs1554793270
3 0.882 0.400 10 49524295 stop gained C/A snv 0.700 1.000 1 2010 2010
dbSNP: rs1554874073
rs1554874073
3 0.882 0.400 10 49461378 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs751448793
rs751448793
3 0.882 0.400 10 49474056 stop gained G/A snv 2.4E-05 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs754978734
rs754978734
3 0.882 0.400 10 49476312 splice acceptor variant T/C snv 1.2E-05 2.1E-05 0.700 1.000 1 2010 2010
dbSNP: rs762976316
rs762976316
3 0.882 0.400 10 49458898 stop gained G/A snv 1.6E-05 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs766980240
rs766980240
3 0.882 0.400 10 49459235 splice acceptor variant C/G snv 2.0E-05 0.700 1.000 1 2010 2010
dbSNP: rs767247987
rs767247987
3 0.882 0.400 10 49483384 stop gained G/A;T snv 1.6E-05; 1.6E-05 0.700 1.000 1 2010 2010
dbSNP: rs771781694
rs771781694
3 0.882 0.400 10 49530737 stop gained G/A;T snv 2.8E-05; 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs786205171
rs786205171
3 0.882 0.400 10 49470424 frameshift variant T/- del 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs786205172
rs786205172
3 0.882 0.400 10 49470352 frameshift variant -/AAGGTGGACCTTAAGCAGCCAGCCCT delins 7.0E-06 0.700 1.000 1 1998 1998
dbSNP: rs906755254
rs906755254
3 0.882 0.400 10 49472461 stop gained G/A snv 4.0E-06 4.2E-05 0.700 1.000 1 1998 1998
dbSNP: rs1198472093
rs1198472093
3 0.882 0.400 10 49532542 splice donor variant C/G;T snv 8.0E-06 2.1E-05 0.700 0
dbSNP: rs121913017
rs121913017
1 1.000 0.160 19 45352223 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913019
rs121913019
3 0.925 0.240 19 45354774 missense variant T/C;G snv 4.0E-06 0.700 0
dbSNP: rs121913025
rs121913025
2 0.925 0.240 19 45357295 missense variant A/G snv 0.700 0
dbSNP: rs121917901
rs121917901
7 0.790 0.440 10 49478437 stop gained G/A snv 7.2E-05 4.9E-05 0.700 0
dbSNP: rs121917904
rs121917904
2 0.925 0.400 10 49482809 stop gained G/A snv 2.4E-05 3.5E-05 0.700 0
dbSNP: rs1228919836
rs1228919836
3 0.882 0.400 10 49493116 splice donor variant C/T snv 4.0E-06 1.4E-05 0.700 0