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: rs1293657674
rs1293657674
3 0.882 0.080 3 184378311 frameshift variant AC/- delins 1.4E-05 0.010 < 0.001 1 2000 2000
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.050 1.000 5 2006 2017
dbSNP: rs121913502
rs121913502
19 0.708 0.320 15 90088702 missense variant C/A;T snv 3.2E-05 0.020 1.000 2 2015 2017
dbSNP: rs1057519996
rs1057519996
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.010 1.000 1 2015 2015