Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		G 0.810 CausalMutation CLINVAR

dbSNP: rs199476108
rs199476108
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.810 CausalMutation CLINVAR

dbSNP: rs397515506
rs397515506
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		T 0.800 CausalMutation CLINVAR

dbSNP: rs387906425
rs387906425
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387906424
rs387906424
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		T 0.800 CausalMutation CLINVAR

dbSNP: rs207459996
rs207459996
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.800 GeneticVariation UNIPROT

dbSNP: rs207459996
rs207459996
CYTB ; ND6
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs199476107
rs199476107
CYTB ; ND5 ; ND6
CUI: C0162671
Disease: MELAS Syndrome
MELAS Syndrome 		A 0.800 CausalMutation CLINVAR

dbSNP: rs199476106
rs199476106
CYTB ; ND5 ; ND6
CUI: C0917796
Disease: Optic Atrophy, Hereditary, Leber
Optic Atrophy, Hereditary, Leber 		G 0.800 CausalMutation CLINVAR

dbSNP: rs199476105
rs199476105
CYTB ; ND5 ; ND6
CUI: C1839040
Disease: LEBER OPTIC ATROPHY AND DYSTONIA
LEBER OPTIC ATROPHY AND DYSTONIA 		A 0.800 CausalMutation CLINVAR

dbSNP: rs879192165
rs879192165
CYTB ; ND6 ; TRNE
CUI: C0342289
Disease: Diabetes-deafness syndrome maternally transmitted (disorder)
Diabetes-deafness syndrome maternally transmitted (disorder) 		G 0.700 CausalMutation CLINVAR

dbSNP: rs869312882
rs869312882
CYTB ; ND5 ; ND6
CUI: C1510502
Disease: Oxyphilic Adenoma
Oxyphilic Adenoma 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs527236207
rs527236207
CYTB ; ND6
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs527236206
rs527236206
CYTB ; ND6
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236205
rs527236205
CYTB ; ND6
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236204
rs527236204
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs527236202
rs527236202
CYTB ; ND6 ; TRNE
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236201
rs527236201
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236201
rs527236201
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs527236199
rs527236199
CYTB ; ND6 ; TRNT
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236196
rs527236196
CYTB ; ND6 ; TRNT
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs527236194
rs527236194
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs527236192
rs527236192
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236191
rs527236191
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs527236190
rs527236190
CYTB ; ND6
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.700 GeneticVariation CLINVAR