Source: ALL

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: rs199951903
rs199951903
CYTB ; ND6
0.925 0.120 MT 15497 missense variant G/A snv
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		0.010 1.000 1 2006 2006
dbSNP: rs207459997
rs207459997
CYTB ; ND6
0.925 MT 15615 missense variant G/A snv
CUI: C0342778
Disease: Ubiquinone dehydrogenase deficiency
Ubiquinone dehydrogenase deficiency 		0.010 1.000 1 1996 1996
dbSNP: rs207460001
rs207460001
CYTB ; ND6
MT 15197 missense variant T/C snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.010 1.000 1 2015 2015
dbSNP: rs28357681
rs28357681
CYTB ; ND6
0.851 0.040 MT 14798 missense variant T/C snv
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
0.851 0.040 MT 14798 missense variant T/C snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
0.851 0.040 MT 14798 missense variant T/C snv
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma 		0.010 1.000 1 2019 2019
dbSNP: rs28357681
rs28357681
CYTB ; ND6
0.851 0.040 MT 14798 missense variant T/C snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 1.000 1 2019 2019
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs28359178
rs28359178
CYTB ; ND5 ; ND6
0.882 0.280 MT 13708 missense variant G/A snv
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		0.010 1.000 1 2015 2015
dbSNP: rs41518645
rs41518645
CYTB ; ND6
0.925 0.200 MT 15257 missense variant G/A snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2019 2019
dbSNP: rs41518645
rs41518645
CYTB ; ND6
0.925 0.200 MT 15257 missense variant G/A snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2019 2019
dbSNP: rs199951903
rs199951903
CYTB ; ND6
0.925 0.120 MT 15497 missense variant G/A snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2002 2002
dbSNP: rs869025186
rs869025186
CYTB ; ND5 ; ND6
1.000 0.160 MT 14498 missense variant T/C snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.700 1.000 5 1992 2001
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0751495
Disease: Seizures, Focal
Seizures, Focal 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0233794
Disease: Memory impairment
Memory impairment 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C1843175
Disease: Hyperreflexia in upper limbs
Hyperreflexia in upper limbs 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C4025701
Disease: Abnormality of the cerebral cortex
Abnormality of the cerebral cortex 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0234629
Disease: Abnormal color vision
Abnormal color vision 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.700 1.000 4 1993 2018
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C1167918
Disease: Increased CSF lactate
Increased CSF lactate 		0.700 1.000 4 1993 2018