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: rs576462794
rs576462794
1 1.000 12 123253884 frameshift variant A/- del 1.8E-04 1.5E-04 0.700 1.000 3 2010 2015
dbSNP: rs587776508
rs587776508
4 0.882 0.040 12 123253922 frameshift variant T/- del 4.0E-06 0.700 0
dbSNP: rs863223926
rs863223926
2 0.925 0.080 12 123253769 frameshift variant -/ATCC delins 0.700 0