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: rs1057516529
rs1057516529
PYGM ; RASGRP2
1 1.000 0.080 11 64746660 stop lost C/A 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: rs1555133248
rs1555133248
PYGM ; RASGRP2
1 1.000 0.080 11 64746809 splice acceptor variant C/T snv 0.700 1.000 2 2006 2012
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: rs1462767117
rs1462767117
PYGM ; RASGRP2
1 1.000 0.080 11 64746981 frameshift variant TT/-;T delins 4.0E-06 0.700 0
dbSNP: rs398124210
rs398124210
PYGM ; RASGRP2
1 1.000 0.080 11 64747274 frameshift variant T/- delins 1.2E-04 5.6E-05 0.700 1.000 14 1998 2017
dbSNP: rs1057517058
rs1057517058
PYGM ; RASGRP2
1 1.000 0.080 11 64747292 frameshift variant ACTGCTCAGCTGCT/- del 0.700 0
dbSNP: rs780656375
rs780656375
PYGM
1 1.000 0.080 11 64750410 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.700 1.000 2 2007 2012
dbSNP: rs1057517067
rs1057517067
PYGM
1 1.000 0.080 11 64750416 frameshift variant -/A 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: rs1483102315
rs1483102315
PYGM
1 1.000 0.080 11 64750442 missense variant G/A snv 1.2E-05 1.4E-05 0.700 1.000 13 1993 2002
dbSNP: rs144081869
rs144081869
PYGM
1 1.000 0.080 11 64750497 missense variant C/T snv 4.8E-05 5.6E-05 0.800 1.000 15 1993 2015
dbSNP: rs119103256
rs119103256
PYGM
1 1.000 0.080 11 64750557 stop gained G/A;C 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: rs753181427
rs753181427
PYGM
1 1.000 0.080 11 64751324 splice donor variant C/A;G snv 4.0E-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: 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: rs1057517442
rs1057517442
PYGM
1 1.000 0.080 11 64751596 splice donor variant C/G snv 0.700 0
dbSNP: rs119103259
rs119103259
PYGM
1 1.000 0.080 11 64751597 splice region variant C/T snv 8.0E-06 0.700 1.000 5 2003 2013
dbSNP: rs750195683
rs750195683
PYGM
1 1.000 0.080 11 64751620 missense variant G/A snv 1.6E-05 0.700 1.000 13 1993 2002
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: rs747513238
rs747513238
PYGM
1 1.000 0.080 11 64751922 splice donor variant A/C snv 2.4E-05 0.700 0
dbSNP: rs771427957
rs771427957
PYGM
1 1.000 0.080 11 64751923 splice donor variant C/T snv 2.0E-05 7.0E-05 0.700 0
dbSNP: rs119103255
rs119103255
PYGM
1 1.000 0.080 11 64751966 stop gained G/A snv 4.0E-05 7.0E-06 0.700 1.000 3 1998 2012
dbSNP: rs786200874
rs786200874
PYGM
1 1.000 0.080 11 64751967 frameshift variant T/- delins 0.700 0