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: rs267606653
rs267606653
3 0.925 11 44267607 stop gained G/A snv 0.700 0
dbSNP: rs587777701
rs587777701
1 1.000 11 44275452 missense variant G/C snv 0.700 0
dbSNP: rs869320717
rs869320717
3 0.925 0.120 11 44309772 frameshift variant C/- del 0.700 0
dbSNP: rs876657391
rs876657391
1 1.000 11 44275622 frameshift variant G/- delins 0.700 0