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: rs118203990
rs118203990
1 1.000 22 46337925 missense variant T/C snv 4.0E-06 0.800 1.000 1 2009 2009
dbSNP: rs118203991
rs118203991
1 1.000 22 46353809 missense variant G/A snv 0.800 1.000 1 2009 2009
dbSNP: rs387907022
rs387907022
3 0.925 22 46353829 missense variant G/A snv 1.7E-04 1.1E-04 0.700 1.000 4 2009 2015
dbSNP: rs118203992
rs118203992
1 1.000 22 46335766 start lost T/A;C;G snv 6.9E-06 0.700 0
dbSNP: rs1490906786
rs1490906786
1 1.000 22 46355445 frameshift variant C/-;CC delins 0.700 0
dbSNP: rs766314948
rs766314948
1 1.000 22 46352316 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs863224242
rs863224242
1 1.000 22 46355521 frameshift variant -/C delins 0.700 0