Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases
0.700 3 2001 2016
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 2 1993 1999
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome
0.700 1 1993 1993
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
0.700 1 2015 2015
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
Sensorineural Hearing Loss (disorder)
0.700 1 2015 2015
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
Diabetes-deafness syndrome maternally transmitted (disorder)
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
Macular Degeneration, Age-Related, 2
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.700 1 2015 2015
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C3151970
Disease: MERRF/MELAS OVERLAP SYNDROME
MERRF/MELAS OVERLAP SYNDROME
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
3-@METHYLGLUTACONIC ACIDURIA, TYPE I
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
Cyclical vomiting syndrome (disorder)
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0268237
Disease: Cytochrome-c Oxidase Deficiency
Cytochrome-c Oxidase Deficiency
0.700 1 2007 2007
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C0349588
Disease: Short stature
Short stature
0.700 1 2015 2015
dbSNP: rs199474657
rs199474657
0.744 0.321 MT 3243 non coding transcript exon variant snp
CUI: C1838818
Disease: MUSCLE STIFFNESS, PAINFUL
MUSCLE STIFFNESS, PAINFUL
0.700 1 2007 2007