Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA ×
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: rs622288
rs622288 		0.807 0.120 1 155612848 missense variant C/T snv 3.6E-05 4.2E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.800 0
dbSNP: rs1553295536
rs1553295536 		1.000 1 155613078 missense variant C/A snv
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 1.000 2 2017 2017
dbSNP: rs762798018
rs762798018 		1.000 1 155610270 missense variant G/A snv 2.0E-04 4.9E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 1.000 2 2017 2017
dbSNP: rs1208636573
rs1208636573 		0.807 0.120 1 155612098 stop gained C/G;T snv 4.0E-06; 4.0E-06
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 0
dbSNP: rs1248439783
rs1248439783 		1.000 1 155613206 frameshift variant G/- delins 2.8E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 0
dbSNP: rs749922789
rs749922789 		1.000 1 155612910 missense variant C/T snv 2.0E-05 4.9E-05
CUI: C4540096
Disease: MYOPATHY, MITOCHONDRIAL, AND ATAXIA
MYOPATHY, MITOCHONDRIAL, AND ATAXIA 		0.700 0