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: rs946234163
rs946234163
TYMP ; SCO2
1 1.000 22 50526639 missense variant C/T snv 7.0E-06 0.700 1.000 1 2000 2000
dbSNP: rs892141220
rs892141220
TYMP ; SCO2
1 1.000 22 50526467 missense variant A/G snv 0.700 1.000 1 2004 2004
dbSNP: rs891107196
rs891107196
TYMP
1 1.000 22 50529278 missense variant G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs866001342
rs866001342
TYMP ; SCO2
1 1.000 22 50526648 stop gained C/A;T snv 0.700 1.000 1 2005 2005
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: rs797044454
rs797044454
TYMP
1 1.000 22 50528510 splice donor variant A/G;T snv 0.700 1.000 1 1999 1999
dbSNP: rs786205098
rs786205098
TYMP ; SCO2
1 1.000 22 50526103 inframe deletion CCAGCG/- delins 1.2E-05 2.1E-05 0.700 1.000 1 1999 1999
dbSNP: rs786205097
rs786205097
TYMP ; SCO2
1 1.000 22 50525808 frameshift variant -/G delins 0.700 0
dbSNP: rs773785934
rs773785934
TYMP ; SCO2
1 1.000 22 50525919 splice acceptor variant C/A;T snv 9.2E-06 0.700 1.000 1 1999 1999
dbSNP: rs770277446
rs770277446
TYMP ; SCO2
1 1.000 22 50526244 splice donor variant A/G;T snv 0.700 1.000 1 2003 2003
dbSNP: rs767245071
rs767245071
TYMP
1 1.000 22 50529339 splice acceptor variant C/G snv 1.2E-05 4.2E-05 0.700 1.000 3 2004 2010
dbSNP: rs764275775
rs764275775
TYMP ; SCO2
1 1.000 22 50525859 missense variant C/A;G snv 0.700 1.000 1 2011 2011
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs752137335
rs752137335
TYMP
1 1.000 22 50529582 missense variant T/G snv 1.2E-05 3.5E-05 0.700 1.000 1 2004 2004
dbSNP: rs749827433
rs749827433
TYMP
1 0.925 22 50529292 missense variant C/A;G snv 4.0E-06 0.700 1.000 2 2002 2005
dbSNP: rs28931613
rs28931613
TYMP
1 1.000 22 50529579 missense variant C/T snv 0.800 1.000 2 1999 2002
dbSNP: rs201732356
rs201732356
POLG
6 0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs201685922
rs201685922
TYMP ; SCO2
1 1.000 22 50526479 splice region variant CGGG/- delins 1.4E-02 1.3E-02 0.700 1.000 1 2000 2000
dbSNP: rs199901350
rs199901350
TYMP
1 1.000 22 50529152 missense variant G/A;T snv 4.0E-04 0.700 1.000 1 2011 2011
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs1556486467
rs1556486467
TYMP ; SCO2
1 1.000 22 50526089 frameshift variant -/A delins 0.700 1.000 1 2004 2004
dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
1 1.000 22 50525898 frameshift variant -/C delins 0.700 0
dbSNP: rs1556486029
rs1556486029
TYMP ; SCO2
1 1.000 22 50525867 frameshift variant -/G delins 0.700 1.000 1 1999 1999
dbSNP: rs149977726
rs149977726
TYMP ; SCO2
1 1.000 22 50527265 missense variant T/C snv 1.2E-05 9.8E-05 0.800 1.000 2 1999 2002
dbSNP: rs1471478620
rs1471478620
TYMP ; SCO2
1 1.000 22 50525910 frameshift variant -/G delins 0.700 0