Source: ALL
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: rs1554791943
rs1554791943
WAC
1 1.000 10 28616264 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1554792658
rs1554792658
WAC
1 1.000 10 28619544 frameshift variant TT/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1135401769
rs1135401769
WAC
2 1.000 10 28590718 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554791124
rs1554791124
WAC
1 1.000 10 28611923 splice donor variant G/A snv 0.700 0
dbSNP: rs1554791975
rs1554791975
WAC
1 1.000 10 28616363 splice donor variant G/A snv 0.700 0
dbSNP: rs1564421528
rs1564421528
WAC
16 0.882 0.080 10 28614666 stop gained C/T snv 0.700 0
dbSNP: rs864321634
rs864321634
WAC
1 1.000 10 28617762 stop gained C/T snv 0.700 0
dbSNP: rs864321689
rs864321689
WAC
1 1.000 10 28535742 frameshift variant AGAG/- delins 0.700 0
dbSNP: rs864321690
rs864321690
WAC
1 1.000 10 28616337 stop gained G/A snv 0.700 0
dbSNP: rs864321691
rs864321691
WAC
1 1.000 10 28535748 frameshift variant -/GG delins 0.700 0
dbSNP: rs864321692
rs864321692
WAC
4 0.925 10 28583498 stop gained C/A snv 0.700 0
dbSNP: rs864321693
rs864321693
WAC
1 1.000 10 28535595 frameshift variant A/- del 0.700 0