Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909721
rs121909721
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.820 CausalMutation CLINVAR
dbSNP: rs121909722
rs121909722
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.800 CausalMutation CLINVAR
dbSNP: rs267607256
rs267607256
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
C 0.800 CausalMutation CLINVAR
dbSNP: rs267607257
rs267607257
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
G 0.800 CausalMutation CLINVAR
dbSNP: rs267607259
rs267607259
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.800 CausalMutation CLINVAR
dbSNP: rs267607260
rs267607260
Entrez Id: 4358;7349
Gene Symbol: MPV17;UCN
MPV17;UCN
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
A 0.800 CausalMutation CLINVAR
dbSNP: rs375401970
rs375401970
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
0.800 GeneticVariation UNIPROT
dbSNP: rs1064793178
rs1064793178
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.700 GeneticVariation CLINVAR
dbSNP: rs121909724
rs121909724
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
T 0.700 CausalMutation CLINVAR
dbSNP: rs147952488
rs147952488
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C1850406
Disease:
NAVAJO NEUROHEPATOPATHY
G 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0003079
Disease:
Anisocoria
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0005745
Disease:
Blepharoptosis
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0018681
Disease:
Headache
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0020580
Disease:
Hypesthesia
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0030196
Disease:
Pain in limb
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0036439
Disease:
Scoliosis, unspecified
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0037763
Disease:
Spasm
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0040264
Disease:
Tinnitus
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0085636
Disease:
Photophobia
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0151313
Disease:
Sensory neuropathy
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0151786
Disease:
Muscle Weakness
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0234146
Disease:
Absent reflex
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0240421
Disease:
Progressive muscle weakness
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0241237
Disease:
Difficulty standing
T 0.700 CausalMutation CLINVAR
dbSNP: rs267607261
rs267607261
Entrez Id: 4358
Gene Symbol: MPV17
MPV17
CUI: C0311394
Disease:
Difficulty walking
T 0.700 CausalMutation CLINVAR