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: rs730880292
rs730880292
1 1.000 16 78108455 missense variant C/G snv 0.800 0
dbSNP: rs1164465811
rs1164465811
2 1.000 16 78425056 splice donor variant G/A;C;T snv 4.0E-06 0.700 0
dbSNP: rs587777248
rs587777248
3 0.882 0.040 16 78108475 stop gained C/A;T snv 1.6E-05; 8.0E-06 0.700 0
dbSNP: rs730880290
rs730880290
1 1.000 16 78432701 stop gained G/A snv 4.0E-06 0.700 0
dbSNP: rs730880291
rs730880291
1 1.000 16 78099823 frameshift variant GACG/- delins 0.700 0
dbSNP: rs730882215
rs730882215
4 0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 0.700 0
dbSNP: rs756762196
rs756762196
4 0.851 0.120 16 78425054 stop gained C/G;T snv 1.6E-05 0.700 0