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: rs1057518083
rs1057518083
21 0.851 0.120 14 101986552 missense variant C/T snv 0.700 0
dbSNP: rs1131692227
rs1131692227
6 0.851 0.160 X 53194576 frameshift variant AGAGC/- delins 0.700 0
dbSNP: rs1208949378
rs1208949378
1 22 42212423 stop gained G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1555926209
rs1555926209
3 1.000 22 42213082 stop gained G/A snv 0.700 0
dbSNP: rs1555926655
rs1555926655
1 22 42213599 frameshift variant G/- delins 0.700 0
dbSNP: rs1564557037
rs1564557037
HK1
1 10 69380082 missense variant A/G snv 0.700 0
dbSNP: rs1569110700
rs1569110700
5 0.925 0.080 22 42179633 missense variant G/A snv 0.700 0
dbSNP: rs1569144264
rs1569144264
1 22 42210520 stop gained G/A snv 0.700 0
dbSNP: rs1569144348
rs1569144348
1 22 42210564 frameshift variant CT/- delins 0.700 0
dbSNP: rs1569147315
rs1569147315
1 22 42211819 frameshift variant -/G delins 0.700 0
dbSNP: rs1569150452
rs1569150452
1 22 42213151 stop gained G/A snv 0.700 0
dbSNP: rs1569150635
rs1569150635
1 22 42213217 frameshift variant CA/- del 0.700 0
dbSNP: rs1569150885
rs1569150885
1 22 42213346 stop gained G/A snv 0.700 0
dbSNP: rs1569153159
rs1569153159
1 22 42214373 frameshift variant CT/- del 0.700 0
dbSNP: rs1569153915
rs1569153915
1 22 42214684 frameshift variant G/- del 0.700 0
dbSNP: rs397514452
rs397514452
ADK
5 1.000 10 74670258 missense variant C/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs751610641
rs751610641
1 22 42214609 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs777979354
rs777979354
1 22 42214941 frameshift variant -/G delins 0.700 0