TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: Blepharoptosis ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs758026634
rs758026634 		0.827 0.240 10 100989280 missense variant G/A;C snv 2.0E-05
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		Eye Diseases 0.010 1.000 1 2013 2013