Source: ALL
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: rs1064792867
rs1064792867
TYMP ; SCO2
1 1.000 22 50527611 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792868
rs1064792868
TYMP ; SCO2
1 1.000 22 50527223 missense variant A/G snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792869
rs1064792869
TYMP ; SCO2
1 1.000 22 50527215 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792870
rs1064792870
TYMP ; SCO2
1 1.000 22 50527170 missense variant T/G snv 7.0E-06 0.700 1.000 1 2004 2004
dbSNP: rs1064792871
rs1064792871
TYMP ; SCO2
1 1.000 22 50526657 missense variant G/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792872
rs1064792872
TYMP ; SCO2
1 1.000 22 50526611 missense variant C/T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792873
rs1064792873
TYMP ; SCO2
1 1.000 22 50526141 missense variant C/T snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792874
rs1064792874
TYMP ; SCO2
1 1.000 22 50526019 missense variant C/T snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792876
rs1064792876
TYMP ; SCO2
1 1.000 22 50526575 splice donor variant C/G;T snv 0.700 1.000 1 2005 2005
dbSNP: rs1064792877
rs1064792877
TYMP ; SCO2
1 1.000 22 50526143 splice acceptor variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792878
rs1064792878
TYMP ; SCO2
1 1.000 22 50526000 splice donor variant C/T snv 7.0E-06 0.700 1.000 1 2009 2009
dbSNP: rs1064792879
rs1064792879
TYMP ; SCO2
1 1.000 22 50525999 splice donor variant A/G;T snv 0.700 1.000 1 2003 2003
dbSNP: rs1064792880
rs1064792880
TYMP
1 1.000 22 50529610 frameshift variant -/G delins 0.700 1.000 1 2000 2000
dbSNP: rs1064792881
rs1064792881
TYMP ; SCO2
1 1.000 22 50526393 inframe insertion -/CCGTCGTCCAGCGCCGCG delins 0.700 1.000 1 2002 2002
dbSNP: rs1064792885
rs1064792885
TYMP ; SCO2
1 1.000 22 50525787 frameshift variant -/A delins 0.700 1.000 1 2009 2009
dbSNP: rs1064792886
rs1064792886
TYMP
1 1.000 22 50529289 frameshift variant GG/- del 0.700 1.000 1 2011 2011
dbSNP: rs1064792887
rs1064792887
TYMP ; SCO2
1 1.000 22 50527210 frameshift variant G/- delins 0.700 1.000 1 2002 2002
dbSNP: rs1064792888
rs1064792888
TYMP ; SCO2
1 1.000 22 50526720 frameshift variant G/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1064792889
rs1064792889
TYMP ; SCO2
1 1.000 22 50525908 frameshift variant C/- delins 0.700 1.000 1 2011 2011
dbSNP: rs1064792890
rs1064792890
TYMP ; SCO2
1 1.000 22 50525873 frameshift variant CTGAGCGCGGGGCCGTCCCG/- delins 0.700 1.000 1 2005 2005
dbSNP: rs1064792891
rs1064792891
TYMP ; SCO2
1 1.000 22 50525819 inframe deletion AATGGC/- del 0.700 1.000 1 2011 2011
dbSNP: rs1064792892
rs1064792892
TYMP ; SCO2
1 1.000 22 50526386 frameshift variant AGGGCCGAGC/TT delins 0.700 1.000 1 2011 2011
dbSNP: rs11479
rs11479
TYMP ; SCO2
2 0.925 0.080 22 50525807 stop gained G/A;C;T snv 0.13; 1.3E-05; 4.3E-06 0.700 1.000 1 2007 2007
dbSNP: rs121913039
rs121913039
TYMP ; SCO2
1 1.000 22 50527612 missense variant C/T snv 3.3E-04 2.7E-04 0.700 1.000 1 2005 2005
dbSNP: rs121913042
rs121913042
TYMP ; SCO2
1 1.000 22 50526650 missense variant A/G snv 7.0E-06 0.700 1.000 1 2005 2005