Source: ALL
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: rs886037734
rs886037734
1.000 19 17341599 missense variant G/A snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 1.000 2 2014 2016
dbSNP: rs886037735
rs886037735
1.000 19 17341078 missense variant G/C snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 1.000 2 2014 2016
dbSNP: rs730880255
rs730880255
1.000 19 17338626 missense variant A/T snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.800 0
dbSNP: rs373370177
rs373370177
1.000 19 17339123 missense variant C/A;G snv 4.0E-06; 2.0E-05
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 1.000 2 2014 2016
dbSNP: rs1057518138
rs1057518138
1.000 19 17337619 missense variant G/C;T snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs1274363168
rs1274363168
1.000 19 17338667 missense variant C/T snv 4.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs1555726849
rs1555726849
1.000 19 17339005 stop gained G/T snv
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs372174278
rs372174278
1.000 19 17339589 missense variant G/C;T snv 1.2E-04; 4.3E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs770871640
rs770871640
1.000 19 17341181 missense variant T/C snv 4.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs774708853
rs774708853
1.000 19 17338590 missense variant C/T snv 8.0E-06
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs869320746
rs869320746
1.000 19 17341512 frameshift variant -/C delins
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs886037736
rs886037736
1.000 19 17337643 frameshift variant AA/GTG delins
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 23
0.700 0
dbSNP: rs1864112
rs1864112
0.925 0.080 19 17338152 missense variant A/C;T snv 0.64
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1864112
rs1864112
0.925 0.080 19 17338152 missense variant A/C;T snv 0.64
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014