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: rs1024152367
rs1024152367
1 1.000 0.120 2 166277137 missense variant C/T snv 4.0E-06 1.4E-05 0.710 1.000 1 2010 2010
dbSNP: rs794729216
rs794729216
1 1.000 0.120 2 166277134 stop gained C/T snv 7.0E-06 0.700 1.000 2 2006 2007
dbSNP: rs121908908
rs121908908
1 1.000 0.120 2 166286562 stop gained G/A;C snv 2.5E-05 0.700 0
dbSNP: rs121908909
rs121908909
1 1.000 0.120 2 166277133 stop gained C/T snv 0.700 0
dbSNP: rs121908916
rs121908916
1 1.000 0.120 2 166303162 stop gained G/A;T snv 1.6E-05; 1.6E-05 0.700 0
dbSNP: rs121908917
rs121908917
1 1.000 0.120 2 166293354 stop gained G/A;T snv 4.1E-06 0.700 0
dbSNP: rs1553478584
rs1553478584
1 1.000 0.120 2 166226601 frameshift variant A/- del 0.700 0
dbSNP: rs200070962
rs200070962
3 0.882 0.120 2 166203996 stop gained C/T snv 4.1E-06 0.700 0
dbSNP: rs606231279
rs606231279
2 1.000 0.120 2 166228871 frameshift variant C/AA delins 0.700 0
dbSNP: rs766212849
rs766212849
3 0.882 0.120 2 166278199 frameshift variant CTTAA/- delins 0.700 0
dbSNP: rs187558439
rs187558439
3 0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-05 0.010 1.000 1 2018 2018