rs1468024757, HARS1

N. diseases: 1
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.
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
11 1.000 0.280 5 140676749 missense variant C/G snv 4.0E-06 0.010 1.000 1 2011 2011