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: rs80338807
rs80338807
1 1.000 0.200 18 2922173 missense variant G/A snv 8.0E-06 7.0E-06 0.810 1.000 2 2005 2009
dbSNP: rs318240736
rs318240736
1 1.000 0.200 18 2931395 frameshift variant AG/- delins 0.700 0
dbSNP: rs750126005
rs750126005
1 1.000 0.200 18 2951056 stop gained G/A snv 1.6E-05 1.4E-05 0.700 0
dbSNP: rs80338806
rs80338806
1 1.000 0.200 18 2951104 frameshift variant AT/- del 0.700 0
dbSNP: rs80338808
rs80338808
1 1.000 0.200 18 2922046 splice donor variant C/G snv 0.700 0
dbSNP: rs916009547
rs916009547
1 1.000 0.200 18 2951176 stop gained G/A snv 4.0E-06 0.700 0