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: rs80358305
rs80358305
3 0.882 0.160 11 68348188 missense variant C/T snv 0.700 0
dbSNP: rs80358319
rs80358319
1 1.000 0.120 11 68433642 frameshift variant A/- del 0.700 0
dbSNP: rs886040977
rs886040977
1 1.000 0.120 11 68386442 missense variant A/G snv 0.700 0
dbSNP: rs866606166
rs866606166
1 1.000 0.120 11 68386678 missense variant G/A snv 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs760548029
rs760548029
1 1.000 0.120 11 68357768 missense variant G/A snv 4.0E-06 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs750791263
rs750791263
1 1.000 0.120 11 68386510 missense variant G/A snv 1.2E-05 7.0E-06 0.700 0
dbSNP: rs1320065036
rs1320065036
2 0.925 0.160 11 68386342 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs121908667
rs121908667
1 1.000 0.120 11 68410024 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1219101402
rs1219101402
1 1.000 0.120 11 68365607 missense variant C/T snv 7.0E-06 0.700 1.000 5 2001 2008
dbSNP: rs757888034
rs757888034
1 1.000 0.120 11 68386600 missense variant G/A;T snv 1.2E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs1273567061
rs1273567061
1 1.000 0.120 11 68386525 missense variant A/G snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs377258285
rs377258285
1 1.000 0.120 11 68425202 missense variant C/T snv 5.6E-05 6.3E-05 0.700 1.000 5 2001 2008