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: rs1057517067
rs1057517067
PYGM
1 1.000 0.080 11 64750416 frameshift variant -/A delins 0.700 0
dbSNP: rs770037766
rs770037766
PYGM
1 1.000 0.080 11 64759870 frameshift variant -/CTTGGTCT delins 4.0E-06 1.4E-05 0.700 0
dbSNP: rs769960481
rs769960481
PYGM
1 1.000 0.080 11 64751627 frameshift variant A/- delins 4.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs1057516629
rs1057516629
PYGM
1 1.000 0.080 11 64758695 frameshift variant A/- del 0.700 0
dbSNP: rs1057516468
rs1057516468
PYGM
1 1.000 0.080 11 64758244 splice donor variant A/C snv 0.700 0
dbSNP: rs747513238
rs747513238
PYGM
1 1.000 0.080 11 64751922 splice donor variant A/C snv 2.4E-05 0.700 0
dbSNP: rs119103260
rs119103260
PYGM
1 1.000 0.080 11 64751970 stop gained A/C;G snv 0.700 1.000 1 2003 2003
dbSNP: rs776680924
rs776680924
PYGM
1 1.000 0.080 11 64758514 missense variant A/G snv 4.8E-05 2.1E-05 0.700 1.000 13 1993 2002
dbSNP: rs780375860
rs780375860
PYGM
1 1.000 0.080 11 64754817 missense variant A/G snv 8.0E-06 2.1E-05 0.700 1.000 13 1993 2002
dbSNP: rs1005687078
rs1005687078
PYGM
1 1.000 0.080 11 64753928 missense variant A/G snv 2.8E-05 0.700 0
dbSNP: rs119103254
rs119103254
PYGM
1 1.000 0.080 11 64753931 missense variant A/G snv 0.700 0
dbSNP: rs119103258
rs119103258
PYGM ; RASGRP2
1 1.000 0.080 11 64746796 missense variant A/G;T snv 1.6E-05; 8.7E-05 0.720 1.000 9 2000 2017
dbSNP: rs1555136540
rs1555136540
PYGM
1 1.000 0.080 11 64758685 frameshift variant AA/- delins 0.700 0
dbSNP: rs527236147
rs527236147
PYGM
1 1.000 0.080 11 64750423 inframe deletion AAG/- delins 1.2E-05 0.700 1.000 4 1994 2014
dbSNP: rs1057517058
rs1057517058
PYGM ; RASGRP2
1 1.000 0.080 11 64747292 frameshift variant ACTGCTCAGCTGCT/- del 0.700 0
dbSNP: rs772194378
rs772194378
PYGM
1 1.000 0.080 11 64759885 frameshift variant AG/- del 0.700 1.000 3 2006 2014
dbSNP: rs786204723
rs786204723
PYGM
1 1.000 0.080 11 64758454 frameshift variant C/- delins 4.0E-06 0.700 1.000 3 2008 2012
dbSNP: rs750857876
rs750857876
PYGM
1 1.000 0.080 11 64759701 frameshift variant C/- delins 0.700 0
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: rs1555136459
rs1555136459
PYGM
1 1.000 0.080 11 64758491 stop gained C/A snv 0.700 1.000 1 2001 2001
dbSNP: rs1057516529
rs1057516529
PYGM ; RASGRP2
1 1.000 0.080 11 64746660 stop lost C/A snv 0.700 0
dbSNP: rs753181427
rs753181427
PYGM
1 1.000 0.080 11 64751324 splice donor variant C/A;G snv 4.0E-06 0.700 0
dbSNP: rs780246932
rs780246932
PYGM
1 1.000 0.080 11 64758458 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.700 1.000 1 2009 2009
dbSNP: rs119103257
rs119103257
PYGM
1 1.000 0.080 11 64752071 stop gained C/A;T snv 0.700 0
dbSNP: rs752848974
rs752848974
PYGM
1 1.000 0.080 11 64751975 stop gained C/A;T snv 8.0E-06; 8.0E-06 0.700 0