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: rs121908577
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0266006
Disease: Pili torti-deafness syndrome
Pili torti-deafness syndrome 		0.800 1.000 2 2007 2013
dbSNP: rs121908577
rs121908577
BCS1L
0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0023264
Disease: Leigh Disease
Leigh Disease 		0.700 1.000 5 2007 2015