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: rs267607097
rs267607097 		1.000 2 84443348 missense variant C/G snv 6.0E-05 7.0E-06
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.800 1.000 4 2007 2010
dbSNP: rs267607099
rs267607099 		1.000 2 84441269 missense variant G/C snv
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.800 1.000 4 2007 2010
dbSNP: rs796052053
rs796052053 		1.000 2 84459230 missense variant T/A;C snv 5.9E-05; 1.3E-05
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.800 1.000 1 2010 2010
dbSNP: rs1369567672
rs1369567672 		1.000 2 84459229 missense variant A/G snv
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.700 1.000 3 2010 2018
dbSNP: rs267607098
rs267607098 		1.000 2 84441330 stop gained G/A snv 4.0E-06
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.700 0
dbSNP: rs786205871
rs786205871 		1.000 2 84459170 splice region variant C/G;T snv 2.7E-05
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.700 0
dbSNP: rs797046017
rs797046017 		1.000 2 84441271 frameshift variant C/- delins
CUI: C3151476
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.700 0