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: rs1057516612
rs1057516612
PYGM
1 1.000 0.080 11 64752493 frameshift variant CTCC/TCA delins 0.700 1.000 2 1994 2014
dbSNP: rs1057516629
rs1057516629
PYGM
1 1.000 0.080 11 64758695 frameshift variant A/- del 0.700 0
dbSNP: rs1057517001
rs1057517001
PYGM ; RASGRP2
1 1.000 0.080 11 64746948 stop gained G/A;T snv 0.700 1.000 1 2007 2007
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: rs1057517145
rs1057517145
PYGM
1 1.000 0.080 11 64758696 stop gained G/C snv 2.1E-05 0.710 1.000 0 2004 2004
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: rs114073621
rs114073621
PYGM
1 1.000 0.080 11 64751346 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2007 2007
dbSNP: rs116135678
rs116135678
PYGM
1 1.000 0.080 11 64754024 missense variant G/A snv 7.1E-04 7.3E-04 0.700 1.000 5 2006 2012
dbSNP: rs116315896
rs116315896
PYGM
1 1.000 0.080 11 64757794 synonymous variant C/T snv 4.6E-03 5.2E-03 0.700 1.000 4 2009 2016
dbSNP: rs1163710370
rs1163710370
PYGM
1 1.000 0.080 11 64754026 splice acceptor variant C/A snv 0.700 1.000 1 2006 2006
dbSNP: rs116987552
rs116987552
PYGM
1 1.000 0.080 11 64759751 stop gained G/A snv 1.5E-03 1.8E-03 0.800 1.000 16 1993 2015
dbSNP: rs119103251
rs119103251
PYGM
1 1.000 0.080 11 64757826 missense variant C/T snv 1.2E-04 2.7E-04 0.730 1.000 7 1993 2013
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