rs1266703941, EXOSC8

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.
Pontocerebellar Hypoplasia Type 1
CUI: C1843504
Disease: Pontocerebellar Hypoplasia Type 1
15 0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018
Spinal Muscular Atrophy
CUI: C0026847
Disease: Spinal Muscular Atrophy
33 0.925 0.080 13 37002522 missense variant G/A;C snv 8.2E-06; 4.1E-06 0.010 1.000 1 2018 2018