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: rs1232856265
rs1232856265
2 0.925 0.240 2 127261248 missense variant C/G;T snv 1.2E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913017
rs121913017
1 1.000 0.160 19 45352223 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121913023
rs121913023
4 0.851 0.400 19 45352511 missense variant C/T snv 2.0E-05 1.4E-05 0.010 1.000 1 2001 2001
dbSNP: rs121913024
rs121913024
4 0.851 0.400 19 45352802 missense variant G/A snv 5.6E-05 3.5E-05 0.010 1.000 1 2001 2001
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: rs121913028
rs121913028
4 0.851 0.400 19 45414870 missense variant G/A;C snv 1.2E-05; 1.6E-05 0.010 1.000 1 2015 2015
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: rs1554873950
rs1554873950
3 0.882 0.400 10 49460371 splice donor variant A/T snv 0.700 0
dbSNP: rs1554873973
rs1554873973
3 0.882 0.400 10 49460453 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554874073
rs1554874073
3 0.882 0.400 10 49461378 frameshift variant C/- delins 0.700 1.000 1 2016 2016
dbSNP: rs765825423
rs765825423
3 0.882 0.400 10 49461382 frameshift variant CT/- del 2.0E-05 1.4E-05 0.700 0
dbSNP: rs1386369933
rs1386369933
3 0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06 0.700 0
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: rs1554875114
rs1554875114
3 0.882 0.400 10 49470181 splice donor variant C/G snv 0.700 0
dbSNP: rs1554875154
rs1554875154
3 0.882 0.400 10 49470332 frameshift variant -/A delins 0.700 0
dbSNP: rs1554875155
rs1554875155
3 0.882 0.400 10 49470346 frameshift variant T/- delins 0.700 0
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: rs1287286877
rs1287286877
3 0.882 0.400 10 49470367 frameshift variant -/TC delins 4.0E-06 0.700 1.000 1 2010 2010
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: rs786205170
rs786205170
3 0.882 0.400 10 49470547 frameshift variant -/T delins 0.700 0
dbSNP: rs1554875287
rs1554875287
3 0.882 0.400 10 49470890 splice acceptor variant C/T snv 0.700 0
dbSNP: rs121917905
rs121917905
1 1.000 0.160 10 49471085 missense variant A/C;G snv 0.800 1.000 1 2010 2010
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