Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs752670374
rs752670374
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
CUI: C4748760
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 		G 0.700 CausalMutation CLINVAR
dbSNP: rs772188600
rs772188600
Entrez Id: 4729;101927275
Gene Symbol: NDUFV2;NDUFV2-AS1
NDUFV2;NDUFV2-AS1
CUI: C4748760
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs775174756
rs775174756
Entrez Id: 4729;101927275
Gene Symbol: NDUFV2;NDUFV2-AS1
NDUFV2;NDUFV2-AS1
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE We detected one novel substitution p.K209R (c.626A>G) in one PD proband. 20971673 2010
dbSNP: rs1156044
rs1156044
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
CUI: C0005586
Disease:
Bipolar Disorder 		0.010 GeneticVariation BEFREE The A allele of the NDUFV2 SNP rs1156044 was significantly associated (Bonferroni-corrected) with BD (p = 0.013) but differed in allele (rs1156044 G allele) from that previously reported as associated with BD. 18199248 2008
dbSNP: rs906807
rs906807
Entrez Id: 4729
Gene Symbol: NDUFV2
NDUFV2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE A novel polymorphism (Ala29Val) in the mitochondrial targeting sequence of NDUFV2 was found in patients with PD. 9570948 1998