rs397514746, KARS1

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.
DEAFNESS, AUTOSOMAL RECESSIVE 89
CUI: C3151351
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 89
3 1.000 16 75631726 missense variant C/T snv 1.4E-05 0.800 1.000 2 2013 2017