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: rs28931613
rs28931613
TYMP
1 1.000 22 50529579 missense variant C/T snv 0.800 1.000 2 1999 2002
dbSNP: rs797044455
rs797044455
TYMP ; SCO2
1 1.000 22 50526142 splice acceptor variant C/G;T snv 0.700 1.000 2 1999 2000
dbSNP: rs1060499532
rs1060499532
TYMP ; SCO2
1 1.000 22 50526338 missense variant A/G snv 0.700 1.000 1 2011 2011
dbSNP: rs1060499533
rs1060499533
TYMP ; SCO2
1 1.000 22 50526293 missense variant A/G snv 0.700 1.000 1 2003 2003
dbSNP: rs1060499535
rs1060499535
TYMP ; SCO2
1 1.000 22 50526317 frameshift variant C/- delins 0.700 1.000 1 2009 2009
dbSNP: rs1064792857
rs1064792857
TYMP
1 1.000 22 50529564 missense variant A/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792858
rs1064792858
TYMP
1 1.000 22 50529548 missense variant G/C;T snv 0.700 1.000 1 2003 2003
dbSNP: rs1064792860
rs1064792860
TYMP
1 1.000 22 50529225 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs1064792862
rs1064792862
TYMP
1 1.000 22 50529155 missense variant A/G snv 0.700 1.000 1 2008 2008
dbSNP: rs1064792863
rs1064792863
TYMP
1 1.000 22 50528561 missense variant T/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792864
rs1064792864
TYMP
1 1.000 22 50528550 missense variant A/G snv 0.700 1.000 1 2000 2000
dbSNP: rs1064792865
rs1064792865
TYMP ; SCO2
1 1.000 22 50527716 start lost A/C snv 0.700 1.000 1 2000 2000
dbSNP: rs1064792866
rs1064792866
TYMP ; SCO2
1 1.000 22 50527704 missense variant A/G snv 0.700 1.000 1 2004 2004
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