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: 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: 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: rs113994095
rs113994095
POLG ; MIR6766
21 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 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: rs113994098
rs113994098
POLG
10 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 0.700 0
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: 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: 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: 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
dbSNP: rs121913038
rs121913038
TYMP
1 1.000 22 50528571 missense variant C/T snv 8.0E-06 7.0E-06 0.800 1.000 2 1999 2002
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: rs121913040
rs121913040
TYMP ; SCO2
1 1.000 22 50526474 missense variant C/A;G;T snv 1.2E-05; 1.2E-05 0.700 1.000 2 2005 2011
dbSNP: rs121913041
rs121913041
TYMP ; SCO2
1 1.000 22 50527629 missense variant C/G;T snv 4.0E-06 0.700 1.000 2 2005 2009