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: rs1555917927
rs1555917927
1 1.000 X 41123671 frameshift variant A/- delins 0.700 0
dbSNP: rs1555930128
rs1555930128
1 1.000 X 41201212 frameshift variant C/- del 0.700 0
dbSNP: rs1555932766
rs1555932766
9 0.882 0.080 X 41210540 stop gained C/T snv 0.700 0
dbSNP: rs1569165417
rs1569165417
2 0.925 X 41140672 missense variant T/C snv 0.700 0
dbSNP: rs869025588
rs869025588
1 1.000 X 41168136 stop gained C/T snv 0.700 0
dbSNP: rs869025589
rs869025589
1 1.000 X 41171836 splice acceptor variant A/G snv 0.700 0
dbSNP: rs869025590
rs869025590
1 1.000 X 41170002 frameshift variant -/A ins 0.700 0
dbSNP: rs869025591
rs869025591
1 1.000 X 41188070 stop gained C/T snv 0.700 0
dbSNP: rs869025592
rs869025592
1 1.000 X 41141381 stop gained C/T snv 0.700 0