Source: CLINVAR

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: rs1135402749
rs1135402749
NDUFV1
1.000 0.040 11 67611934 missense variant T/C snv
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.710 1.000 0 2018 2018
dbSNP: rs121913659
rs121913659
NDUFV1
0.925 0.040 11 67612225 missense variant C/T snv 1.2E-05 3.5E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 2 1999 2015
dbSNP: rs150966634
rs150966634
NDUFV1
1.000 0.040 11 67611972 missense variant C/T snv 1.2E-04 1.4E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 1.000 2 2008 2013
dbSNP: rs199683937
rs199683937
NDUFV1
0.925 0.040 11 67611982 splice region variant A/C snv 6.0E-05 4.9E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0
dbSNP: rs201727685
rs201727685
NDUFV1 ; C11orf72
1.000 0.040 11 67608562 missense variant T/A;C snv 1.6E-05; 5.2E-05
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 0