Source: CURATED

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: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C1836439
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.700 1.000 12 2001 2011
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.700 1.000 1 2017 2017
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C1865916
Disease: Bilateral ptosis
Bilateral ptosis 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4021546
Disease: Abnormal mitochondria in muscle tissue
Abnormal mitochondria in muscle tissue 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C4025729
Disease: Neuromuscular dysphagia
Neuromuscular dysphagia 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C1527344
Disease: Dysphonia
Dysphonia 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		0.700 0
dbSNP: rs1554887097
rs1554887097
TWNK ; MRPL43
0.807 0.320 10 100989331 missense variant G/A snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.700 0