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: rs121909066
rs121909066
1 1.000 0.120 18 3456420 missense variant C/G snv 2.8E-05 4.9E-05 0.800 1.000 2 2000 2004
dbSNP: rs121909068
rs121909068
1 1.000 0.120 18 3457572 missense variant A/G snv 1.4E-04 8.4E-05 0.800 1.000 2 2000 2004
dbSNP: rs121909069
rs121909069
1 1.000 0.120 18 3457606 missense variant C/T snv 8.0E-06 0.800 1.000 2 2000 2004
dbSNP: rs1555650923
rs1555650923
1 1.000 0.120 18 3457389 missense variant C/T snv 0.700 1.000 2 2002 2007
dbSNP: rs28939693
rs28939693
1 1.000 0.120 18 3457441 missense variant A/G;T snv 3.2E-04 0.700 1.000 2 2000 2004
dbSNP: rs121909070
rs121909070
1 1.000 0.120 18 3452156 stop gained C/G snv 0.700 0
dbSNP: rs397515500
rs397515500
1 1.000 0.120 13 99984961 frameshift variant AG/- del 0.700 0
dbSNP: rs121909067
rs121909067
2 0.925 0.120 18 3456525 missense variant C/G snv 0.800 1.000 2 2000 2004
dbSNP: rs121917878
rs121917878
2 0.925 0.120 2 44942780 missense variant C/G snv 0.700 0