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: rs786204789
rs786204789
1 1.000 0.200 1 165768250 frameshift variant ACCA/- delins 0.700 1.000 4 2010 2014
dbSNP: rs372701032
rs372701032
1 1.000 0.200 1 165752099 splice region variant C/G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs201213306
rs201213306
1 1.000 0.200 1 165752166 stop gained G/A snv 2.4E-05 1.4E-05 0.700 0
dbSNP: rs397518448
rs397518448
1 1.000 0.200 1 165768764 frameshift variant CT/- delins 0.700 0
dbSNP: rs752176040
rs752176040
1 1.000 0.200 1 165768200 frameshift variant CT/- delins 1.1E-04 2.5E-04 0.700 0