Source: CURATED ×
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: rs1005687078
rs1005687078
PYGM
1 1.000 0.080 11 64753928 missense variant A/G snv 2.8E-05 0.700 0
dbSNP: rs1057516259
rs1057516259
PYGM
1 1.000 0.080 11 64752012 frameshift variant G/- delins 0.700 0
dbSNP: rs1057516329
rs1057516329
PYGM
1 1.000 0.080 11 64758687 frameshift variant CAGGTAGTAGA/- delins 0.700 0
dbSNP: rs1057516349
rs1057516349
PYGM
1 1.000 0.080 11 64759695 stop gained C/T snv 0.700 0
dbSNP: rs1057516468
rs1057516468
PYGM
1 1.000 0.080 11 64758244 splice donor variant A/C snv 0.700 0
dbSNP: rs1057516529
rs1057516529
PYGM ; RASGRP2
1 1.000 0.080 11 64746660 stop lost C/A snv 0.700 0
dbSNP: rs1057516598
rs1057516598
PYGM
1 1.000 0.080 11 64750584 splice acceptor variant C/T snv 0.700 0
dbSNP: rs1057516629
rs1057516629
PYGM
1 1.000 0.080 11 64758695 frameshift variant A/- del 0.700 0
dbSNP: rs1057517058
rs1057517058
PYGM ; RASGRP2
1 1.000 0.080 11 64747292 frameshift variant ACTGCTCAGCTGCT/- del 0.700 0
dbSNP: rs1057517067
rs1057517067
PYGM
1 1.000 0.080 11 64750416 frameshift variant -/A delins 0.700 0
dbSNP: rs1057517361
rs1057517361
PYGM
1 1.000 0.080 11 64759682 stop gained G/A snv 0.700 0
dbSNP: rs1057517400
rs1057517400
PYGM
1 1.000 0.080 11 64758326 frameshift variant TTGC/- del 0.700 0
dbSNP: rs1057517442
rs1057517442
PYGM
1 1.000 0.080 11 64751596 splice donor variant C/G snv 0.700 0
dbSNP: rs119103252
rs119103252
PYGM
1 1.000 0.080 11 64752064 missense variant T/G snv 7.0E-06 0.700 0
dbSNP: rs119103253
rs119103253
PYGM
1 1.000 0.080 11 64751331 missense variant C/T snv 1.2E-05 2.1E-05 0.700 0
dbSNP: rs119103254
rs119103254
PYGM
1 1.000 0.080 11 64753931 missense variant A/G snv 0.700 0
dbSNP: rs119103256
rs119103256
PYGM
1 1.000 0.080 11 64750557 stop gained G/A;C snv 0.700 0
dbSNP: rs119103257
rs119103257
PYGM
1 1.000 0.080 11 64752071 stop gained C/A;T snv 0.700 0
dbSNP: rs1462767117
rs1462767117
PYGM ; RASGRP2
1 1.000 0.080 11 64746981 frameshift variant TT/-;T delins 4.0E-06 0.700 0
dbSNP: rs1555136208
rs1555136208
PYGM
1 1.000 0.080 11 64757778 splice donor variant C/T snv 0.700 0
dbSNP: rs1555136540
rs1555136540
PYGM
1 1.000 0.080 11 64758685 frameshift variant AA/- delins 0.700 0
dbSNP: rs1555136752
rs1555136752
PYGM
1 1.000 0.080 11 64759679 frameshift variant GC/- del 0.700 0
dbSNP: rs1565538121
rs1565538121
PYGM
1 1.000 0.080 11 64758453 frameshift variant CGTTGCCCAGCCCC/- delins 0.700 0
dbSNP: rs370247862
rs370247862
PYGM
1 1.000 0.080 11 64758668 missense variant G/A snv 3.6E-05 1.4E-05 0.700 0
dbSNP: rs397514631
rs397514631
PYGM
1 1.000 0.080 11 64759747 missense variant T/C snv 0.700 0