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: rs750962965
rs750962965
3 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 3 2005 2013
dbSNP: rs1156803164
rs1156803164
1 1.000 0.200 3 121808955 frameshift variant GAGA/- delins 0.700 0
dbSNP: rs121918244
rs121918244
4 0.882 0.200 3 121781772 stop gained G/A snv 6.8E-05 1.1E-04 0.700 0
dbSNP: rs121918245
rs121918245
1 1.000 0.200 3 121790133 stop gained G/A;C snv 0.700 0
dbSNP: rs1474058708
rs1474058708
1 1.000 0.200 3 121797166 frameshift variant GTCT/- delins 7.0E-06 0.700 0
dbSNP: rs373909351
rs373909351
6 0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06 0.700 0
dbSNP: rs387907009
rs387907009
3 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 0
dbSNP: rs398123538
rs398123538
6 0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05 0.700 0
dbSNP: rs587783011
rs587783011
1 1.000 0.200 3 121772600 frameshift variant -/CT delins 8.0E-06 0.700 0
dbSNP: rs745340459
rs745340459
2 0.925 0.200 3 121795542 frameshift variant -/AGCA delins 5.6E-05 6.3E-05 0.700 0
dbSNP: rs786200929
rs786200929
1 1.000 0.200 3 121826111 frameshift variant A/- del 0.700 0