rs121908577, BCS1L

N. diseases: 2
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pili torti-deafness syndrome
CUI: C0266006
Disease: Pili torti-deafness syndrome
10 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.800 1.000 2 2007 2013
Leigh Disease
CUI: C0023264
Disease: Leigh Disease
114 0.925 0.240 2 218661846 missense variant G/A snv 1.6E-05 7.0E-06 0.700 1.000 5 2007 2015