Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113994094
rs113994094
0.827 0.080 15 89330184 missense variant G/A snv 1.5E-03 1.6E-03
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs113994096
rs113994096
0.827 0.080 15 89325639 missense variant G/A snv 1.5E-03 1.6E-03
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs113994098
rs113994098
0.742 0.320 15 89321792 missense variant C/T snv 1.5E-04 2.7E-04
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs121918050
rs121918050
1.000 15 89321743 missense variant T/C snv 4.0E-06 7.0E-06
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs121918056
rs121918056
0.882 0.080 15 89330257 missense variant G/A snv 4.0E-06 7.0E-06
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.800 1.000 2 2003 2009
dbSNP: rs201477273
rs201477273
0.851 0.120 15 89320857 missense variant G/A snv 6.8E-04 3.4E-04
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 1.000 3 2007 2010
dbSNP: rs113994095
rs113994095
0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs121918044
rs121918044
0.807 0.240 15 89329055 missense variant A/C snv 5.7E-05 3.5E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs121918054
rs121918054
0.807 0.240 15 89323460 missense variant C/G;T snv 6.9E-04; 4.0E-06
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs138929605
rs138929605
0.882 0.080 15 89330106 missense variant T/A;C;G snv 3.8E-04; 2.0E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs139590686
rs139590686
0.925 0.080 15 89321007 missense variant T/C;G snv 1.1E-04
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs144500145
rs144500145
0.807 0.240 15 89321780 missense variant G/A snv 4.8E-05 6.3E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs145843073
rs145843073
0.882 0.080 15 89327198 missense variant T/C snv 4.7E-04 6.3E-04
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs201732356
rs201732356
0.807 0.240 15 89318737 missense variant G/A;C snv 8.0E-06
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0
dbSNP: rs267606959
rs267606959
0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
0.700 0