rs757743894, RARS2

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.
Pontocerebellar Hypoplasia Type 6
CUI: C1969084
Disease: Pontocerebellar Hypoplasia Type 6
13 1.000 0.080 6 87545677 inframe deletion TTT/- del 1.3E-04 1.5E-04 0.700 1.000 2 2012 2016