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: rs1565569139
rs1565569139
1 12 21483400 frameshift variant G/ACATGCTACATC delins 0.700 0
dbSNP: rs1565570957
rs1565570957
1 12 21486483 frameshift variant GAACT/- del 0.700 0
dbSNP: rs745659712
rs745659712
1 12 21491613 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs753723230
rs753723230
1 12 21486554 frameshift variant A/- del 5.8E-05 3.8E-05 0.700 0