Source: UNIPROT

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: rs104893873
rs104893873
SLC25A4
1.000 0.200 4 185144992 missense variant G/C snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.800 1.000 7 2000 2016
dbSNP: rs104893874
rs104893874
SLC25A4
1.000 0.200 4 185146939 missense variant G/A snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.800 1.000 7 2000 2016
dbSNP: rs104893876
rs104893876
SLC25A4
1.000 0.200 4 185144945 missense variant T/C snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.800 1.000 7 2000 2016
dbSNP: rs28999114
rs28999114
SLC25A4
0.925 0.200 4 185144963 missense variant A/G snv
CUI: C1836460
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 2 		0.800 1.000 7 2000 2016
dbSNP: rs121912683
rs121912683
SLC25A4
0.851 0.200 4 185145020 missense variant C/A snv 4.0E-06 7.0E-06
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.800 1.000 4 2005 2016
dbSNP: rs770816416
rs770816416
SLC25A4
1.000 4 185145867 missense variant G/A;C snv 4.0E-06
CUI: C3809443
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE
MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE 		0.800 1.000 4 2005 2016