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 8 2005 2017
dbSNP: rs727503968
rs727503968
1 1.000 0.080 3 121790112 stop gained G/A snv 5.6E-05 5.6E-05 0.700 1.000 3 2009 2015
dbSNP: rs1280238814
rs1280238814
1 1.000 0.080 3 121772620 stop gained G/A snv 8.0E-06 0.700 1.000 2 2011 2015
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: 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: rs745340459
rs745340459
2 0.925 0.200 3 121795542 frameshift variant -/AGCA delins 5.6E-05 6.3E-05 0.700 0