rs879253779, TSEN15

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 2F
CUI: C4310757
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F
3 1.000 1 184072258 missense variant A/G snv 0.800 1.000 2 2015 2016