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: rs121912563
rs121912563
1 1.000 0.120 4 148114132 missense variant A/G snv 0.800 1.000 4 2000 2007
dbSNP: rs121912565
rs121912565
2 0.925 0.120 4 148154589 missense variant T/C snv 0.800 1.000 4 2000 2007
dbSNP: rs121912566
rs121912566
1 1.000 0.120 4 148259978 missense variant C/T snv 0.800 1.000 4 2000 2007
dbSNP: rs121912567
rs121912567
1 1.000 0.120 4 148081363 missense variant A/G snv 0.800 1.000 4 2000 2007
dbSNP: rs121912573
rs121912573
1 1.000 0.120 4 148152526 stop gained G/A;T snv 0.800 1.000 4 2000 2007
dbSNP: rs121912574
rs121912574
1 1.000 0.120 4 148081384 missense variant T/C snv 0.800 1.000 4 2000 2007
dbSNP: rs121912569
rs121912569
1 1.000 0.120 4 148081460 stop gained G/A snv 0.710 1.000 1 2006 2006
dbSNP: rs1553986377
rs1553986377
1 1.000 0.120 4 148114148 stop gained G/A snv 0.700 1.000 3 2006 2016
dbSNP: rs121912562
rs121912562
2 0.925 0.160 4 148435252 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs121912564
rs121912564
1 1.000 0.120 4 148194825 stop gained G/T snv 0.700 0
dbSNP: rs121912568
rs121912568
1 1.000 0.120 4 148436373 stop gained G/C snv 0.700 0
dbSNP: rs121912570
rs121912570
1 1.000 0.120 4 148435553 stop gained A/T snv 0.700 0
dbSNP: rs121912571
rs121912571
1 1.000 0.120 4 148154899 stop gained G/A snv 0.700 0
dbSNP: rs121912572
rs121912572
1 1.000 0.120 4 148154892 stop gained G/C snv 0.700 0
dbSNP: rs1553535841
rs1553535841
1 1.000 0.120 2 224557750 missense variant T/C snv 0.700 0
dbSNP: rs1560735659
rs1560735659
1 1.000 0.120 4 148435729 frameshift variant -/A delins 0.700 0
dbSNP: rs1560910156
rs1560910156
1 1.000 0.120 4 148081427 frameshift variant -/G delins 0.700 0
dbSNP: rs1560928649
rs1560928649
1 1.000 0.120 4 148114246 missense variant A/C snv 0.700 0
dbSNP: rs1560949756
rs1560949756
1 1.000 0.120 4 148154548 splice region variant T/- del 0.700 0
dbSNP: rs748573472
rs748573472
1 1.000 0.120 4 148154820 frameshift variant G/-;GGGGGGGGGG delins 0.700 0