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: rs387907009
rs387907009
3 0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05 0.700 1.000 1 2011 2011
dbSNP: rs750962965
rs750962965
3 0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04 0.700 1.000 1 2005 2005
dbSNP: rs1553722736
rs1553722736
1 1.000 0.040 3 121828473 stop gained A/C snv 0.700 0
dbSNP: rs201405662
rs201405662
1 1.000 0.040 3 121828519 stop gained G/A;C snv 3.6E-05; 8.0E-06 0.700 0