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: rs869312882
rs869312882
CYTB ; ND5 ; ND6
1.000 0.040 MT 14243 frameshift variant -/C delins
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		0.700 0
dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
1.000 0.160 MT 14495 missense variant A/G snv
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		0.800 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
dbSNP: rs207460002
rs207460002
CYTB ; ND6
1.000 MT 15579 missense variant A/G snv
CUI: C3151898
Disease: MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT
MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT 		0.700 1.000 1 2001 2001
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.700 1.000 1 2016 2016
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
1.000 0.080 MT 14597 missense variant A/G snv
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 1.000 1 2016 2016
dbSNP: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.700 0
dbSNP: rs193302996
rs193302996
CYTB ; ND6
1.000 0.120 MT 15607 synonymous variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236161
rs527236161
CYTB ; ND6
1.000 0.120 MT 14743 upstream gene variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236174
rs527236174
CYTB ; ND6
1.000 0.080 MT 15226 synonymous variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236178
rs527236178
CYTB ; ND6
1.000 0.120 MT 15328 synonymous variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236182
rs527236182
CYTB ; ND6
1.000 0.120 MT 15363 missense variant A/G snv
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.700 0
dbSNP: rs527236191
rs527236191
CYTB ; ND6
1.000 0.080 MT 15649 synonymous variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0
dbSNP: rs527236192
rs527236192
CYTB ; ND6
1.000 0.080 MT 15682 synonymous variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.700 0