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: 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
dbSNP: rs1254008304
rs1254008304
3 0.882 0.400 10 49524649 frameshift variant -/GG delins 7.0E-06 0.700 0
dbSNP: rs1317145066
rs1317145066
3 0.882 0.400 10 49506014 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1362935450
rs1362935450
3 0.882 0.400 10 49478353 splice donor variant C/T snv 0.700 0
dbSNP: rs1386369933
rs1386369933
3 0.882 0.400 10 49461463 frameshift variant -/G delins 7.0E-06 0.700 0
dbSNP: rs1441655600
rs1441655600
3 0.882 0.400 10 49482686 splice donor variant C/T snv 0.700 0
dbSNP: rs1554787554
rs1554787554
3 0.882 0.400 10 49474243 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1554789393
rs1554789393
3 0.882 0.400 10 49493117 frameshift variant C/TT delins 0.700 0
dbSNP: rs1554793174
rs1554793174
3 0.882 0.400 10 49524032 splice donor variant C/G snv 0.700 0
dbSNP: rs1554793305
rs1554793305
1 1.000 0.160 10 49524426 frameshift variant A/- del 0.700 0
dbSNP: rs1554794073
rs1554794073
3 0.882 0.400 10 49528527 splice acceptor variant T/C snv 0.700 0
dbSNP: rs1554794360
rs1554794360
3 0.882 0.400 10 49530824 frameshift variant G/- delins 0.700 0
dbSNP: rs1554794620
rs1554794620
3 0.882 0.400 10 49532705 frameshift variant GC/- delins 0.700 0
dbSNP: rs1554794640
rs1554794640
3 0.882 0.400 10 49532751 frameshift variant G/- delins 0.700 0
dbSNP: rs1554794641
rs1554794641
3 0.882 0.400 10 49532757 frameshift variant -/C delins 0.700 0
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: 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