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: rs121913036
rs121913036
TYMP ; SCO2
1 1.000 22 50526638 missense variant T/G snv 5.3E-05 4.9E-05 0.700 1.000 5 1999 2013
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: 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: rs761665644
rs761665644
TYMP ; SCO2
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
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: 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: rs1064792863
rs1064792863
TYMP
1 1.000 22 50528561 missense variant T/C snv 0.700 1.000 1 2004 2004
dbSNP: rs1064792886
rs1064792886
TYMP
1 1.000 22 50529289 frameshift variant GG/- del 0.700 1.000 1 2011 2011
dbSNP: rs891107196
rs891107196
TYMP
1 1.000 22 50529278 missense variant G/T snv 0.700 1.000 1 2007 2007
dbSNP: rs1064792858
rs1064792858
TYMP
1 1.000 22 50529548 missense variant G/C;T snv 0.700 1.000 1 2003 2003
dbSNP: rs1064792871
rs1064792871
TYMP ; SCO2
1 1.000 22 50526657 missense variant G/C snv 0.700 1.000 1 2004 2004
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: rs11479
rs11479
TYMP ; SCO2
1 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: rs201732356
rs201732356
POLG
6 0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs1064792860
rs1064792860
TYMP
1 1.000 22 50529225 stop gained G/A snv 0.700 1.000 1 2011 2011
dbSNP: rs113994094
rs113994094
POLG
6 0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs113994096
rs113994096
POLG
7 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs118192101
rs118192101
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
1 1.000 MT 8313 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs144500145
rs144500145
POLG
6 0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05 0.700 0
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: rs1064792890
rs1064792890
TYMP ; SCO2
1 1.000 22 50525873 frameshift variant CTGAGCGCGGGGCCGTCCCG/- delins 0.700 1.000 1 2005 2005
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: 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: rs121913037
rs121913037
TYMP
1 1.000 22 50528595 missense variant C/T snv 1.6E-05 7.0E-05 0.800 1.000 2 1999 2002