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: rs1187168418
rs1187168418
2 1.000 0.120 9 137199553 stop gained C/A;G snv 0.700 0
dbSNP: rs1564386891
rs1564386891
2 1.000 0.120 9 137200659 stop gained C/T snv 0.700 0
dbSNP: rs267607135
rs267607135
1 1.000 0.120 9 137199473 stop gained C/T snv 7.0E-06 0.700 0
dbSNP: rs387906219
rs387906219
1 1.000 0.120 9 137199285 frameshift variant G/- delins 0.700 0
dbSNP: rs387906220
rs387906220
1 1.000 0.120 9 137200474 frameshift variant -/AGCCGCGCCCC delins 0.700 0
dbSNP: rs387906221
rs387906221
1 1.000 0.120 9 137200477 frameshift variant CCCGCCGCGCC/-;CCCGCCGCGCCCCCGCCGCGCC delins 1.8E-04 0.700 0
dbSNP: rs387906222
rs387906222
1 1.000 0.120 9 137199182 frameshift variant C/- delins 0.700 0