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: rs1064792875
rs1064792875
TYMP ; SCO2
1 1.000 22 50525908 stop gained C/T snv 0.700 0
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
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 0
dbSNP: rs113994096
rs113994096
POLG
8 0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03 0.700 0
dbSNP: rs113994098
rs113994098
POLG
12 0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04 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: rs121918044
rs121918044
POLG
6 0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05 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: rs1471478620
rs1471478620
TYMP ; SCO2
1 1.000 22 50525910 frameshift variant -/G delins 0.700 0
dbSNP: rs1556486107
rs1556486107
TYMP ; SCO2
1 1.000 22 50525898 frameshift variant -/C delins 0.700 0
dbSNP: rs1556488264
rs1556488264
TYMP ; SCO2
4 0.925 0.120 22 50527165 inframe deletion AGC/- delins 0.700 0
dbSNP: rs201732356
rs201732356
POLG
6 0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06 0.700 0
dbSNP: rs761665644
rs761665644
TYMP ; SCO2
4 0.925 0.120 22 50527606 missense variant T/G snv 8.0E-06 0.700 0
dbSNP: rs786205097
rs786205097
TYMP ; SCO2
1 1.000 22 50525808 frameshift variant -/G delins 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: 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: 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: 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
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: rs28931613
rs28931613
TYMP
1 1.000 22 50529579 missense variant C/T snv 0.800 1.000 2 1999 2002
dbSNP: rs749827433
rs749827433
TYMP
2 0.925 22 50529292 missense variant C/A;G snv 4.0E-06 0.700 1.000 2 2002 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: rs1054084896
rs1054084896
TYMP
1 1.000 22 50529598 stop gained C/A snv 4.0E-06 0.700 1.000 1 2011 2011