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: rs121918334
rs121918334
1 1.000 0.040 11 792429 missense variant G/A snv 1.2E-05 2.8E-05 0.800 1.000 1 2005 2005
dbSNP: rs1195505218
rs1195505218
4 0.925 0.040 11 792142 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs121918335
rs121918335
1 1.000 0.040 11 792340 missense variant C/A snv 0.700 0
dbSNP: rs1554965669
rs1554965669
2 0.925 0.040 11 792888 stop gained G/A snv 0.700 0
dbSNP: rs1565035177
rs1565035177
4 0.925 0.040 11 792146 frameshift variant CA/- delins 0.700 0
dbSNP: rs587777243
rs587777243
1 1.000 0.040 11 792954 missense variant C/G snv 0.700 0
dbSNP: rs797045969
rs797045969
1 1.000 0.040 11 792722 stop gained G/A snv 0.700 0